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Gene: Prickle1 MGI:1916034

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
prickle planar cell polarity protein 1
Synonyms:
1110058P22Rik,  b2b019Clo,  mpk1,  Pk1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Prickle1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Prickle1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Dementia, Myoclonus ORPHA:308
Epilepsy, Progressive Myoclonic, 1B
Generalized myoclonic seizure, Atonic seizure, Myoclonus OMIM:612437

The table below shows human diseases predicted to be associated to Prickle1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Right aortic arch, Transp... OMIM:231060
17Q21.31 Microduplication Syndrome
Epicanthus, Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Abnormality of the dentit... ORPHA:217340
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... ORPHA:1507
Intellectual Developmental Disorder, X-Linked 91
Epicanthus, Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, C... OMIM:300577
Tetrasomy X
Epicanthus, Hypertelorism, Abnormality of the dentition, Upslanted palpebral fissure, Radioulnar ... ORPHA:9
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
14Q11.2 Microdeletion Syndrome
Epicanthus, Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebro... ORPHA:261120
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Sparse hair, Agenesis of corpus callosum, Microretrognat... OMIM:311200
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Epicanthus, Micromelia... ORPHA:1240
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,... OMIM:616300
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Vesic... OMIM:616894
Acromicric Dysplasia
Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Narrow m... ORPHA:969
X-Linked Intellectual Disability, Stoll Type
Hypoplastic nasal bridge, Anteverted nares, Hypertelorism, Broad nasal tip, Long philtrum, Clinod... ORPHA:85326
Chromosome 15Q13.3 Deletion Syndrome
Hypertelorism, Synophrys, Abnormality of the palpebral fissures, Clinodactyly of the 5th finger, ... OMIM:612001
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Short palm, Micropen... OMIM:268310
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Hall-Riggs Syndrome
Metaphyseal dysplasia, Epicanthus, Depressed nasal bridge, Anteverted nares, Prominent nose, Hype... OMIM:234250
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thin upper lip vermilion, Tapered finger, Broad nasal tip, Hypertelorism, Wide nasal bridge, Narr... OMIM:618147
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Robinow Syndrome
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, We... ORPHA:97360
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat... OMIM:155050
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... OMIM:619736
Orofaciodigital Syndrome V
Unilateral ptosis, Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamar... OMIM:174300
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Hypertelorism, Micrognathia, De... ORPHA:166016
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp... ORPHA:1529
Trisomy 8Q
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Jo... ORPHA:1752
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Vesicoureteral reflux, Cli... OMIM:616580
Acrocephalopolydactyly
Epicanthus, Hypertelorism, Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, ... ORPHA:221054
Orofaciodigital Syndrome Type 5
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... ORPHA:2919
Membranous Cranial Ossification, Delayed
Downslanted palpebral fissures, Depressed nasal bridge, Hypertelorism OMIM:155980
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Epicanthus, Hyperl... ORPHA:2831
Velo-Facial-Skeletal Syndrome
Prominent fingertip pads, Epicanthus, Telecanthus, Hypertelorism, Abnormal thumb morphology, Abno... ORPHA:3424
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip ... ORPHA:2370
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Telecanthus, Cleft ala nasi, Underdeveloped nasal alae, Hypertelorism, Non-midline cleft lip, Wid... ORPHA:2007
Rubinstein-Taybi Syndrome 2
Prominent nose, Micrognathia, High palate, Prominent fingertip pads, Syndactyly, Broad hallux, Hi... OMIM:613684
Familial Intestinal Malrotation
Long palpebral fissure, Depressed nasal bridge, Anteverted nares, Hypertelorism ORPHA:508410
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epicanthus, Hypertelorism, Prominent nose, Micrognathia, Epiphyseal stippling, High palate, Downs... OMIM:614882
Fetal Trimethadione Syndrome
Epicanthus, Hypospadias, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Bilater... ORPHA:1913
Uvula, Bifid
Bifid uvula OMIM:192100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding... ORPHA:352665
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, ... ORPHA:818
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E... ORPHA:3107
Microcephaly 4, Primary, Autosomal Recessive
Hypertelorism, Micrognathia, Synophrys, Thick eyebrow, Low hanging columella OMIM:604321
Distal Deletion 15Q
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna... ORPHA:1596
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Synophrys, High palate, Conductive hearing impairment, Clinodactyly ... OMIM:617877
Burn-Mckeown Syndrome
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Abnormal palate morphology, Bilateral c... ORPHA:1200
Orofaciodigital Syndrome Xviii
Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol... OMIM:617927
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Broad eyebrow, Epicanthus, Thin upper lip vermilion, Broad hallux, Overlapping toe, Sandal gap, B... OMIM:617755
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Dextrotransp... OMIM:618619
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met... ORPHA:1278
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Phenobarbital Embryopathy
Mandibular prognathia, Epicanthus, Hypertelorism, Aplasia/Hypoplasia of fingers, Abnormal nasal b... ORPHA:1919
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Agenesis of corpus callos... OMIM:613091
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... ORPHA:2751
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, B... OMIM:619451
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Epicanthus, Telecanthus, Single transverse palmar crease, Underd... OMIM:601224
Dislocation Of The Hip-Dysmorphism Syndrome
Epicanthus, Congenital hip dislocation, Anteverted nares, Prominence of the premaxilla, Hearing a... ORPHA:2412
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve... OMIM:618961
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Keipert Syndrome
Unilateral ptosis, Wide nose, Broad hallux, Exaggerated cupid's bow, Prominent nose, Hyperteloris... OMIM:301026
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... ORPHA:1248
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Ventriculomegaly, Ventricular septal def... ORPHA:1388
Ring Chromosome 8 Syndrome
Epicanthus, Anteverted nares, Deviation of finger, Short nose, Abnormal palate morphology ORPHA:1450
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Hypertelorism, Micrognathia, Synophrys, Wide nasal bridge, Downslanted palpebral fissures, Adduct... ORPHA:3207
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Hypertelorism, Short neck, High palate, Narrow mouth, Clin... ORPHA:217385
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Single transverse palmar crease, Micrognathia, Clinodactyly, Hypotelorism, Deeply set eye, Glosso... OMIM:613604
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Kyphosis... ORPHA:40
Charlie M Syndrome
Finger syndactyly, Hypertelorism, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, ... ORPHA:1406
Non-Distal Duplication 10Q
Depressed nasal bridge, Hypertelorism, Micrognathia, High palate, Everted lower lip vermilion, Sc... ORPHA:1695
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Bulbous nose, Deep phil... OMIM:102370
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Terminal Osseous Dysplasia
Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Accessory oral frenulum, Hy... OMIM:300244
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:311895
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... ORPHA:1453
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Frontorhiny
Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Encephalocele, Camptodactyly of finger, Hy... ORPHA:391474
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Whistling Face Syndrome, Recessive Form
Micrognathia, Short neck, High palate, Hypertelorism, Ulnar deviation of finger, Narrow mouth, Mi... OMIM:277720
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Trigonocephaly 2
Downslanted palpebral fissures, Depressed nasal bridge, Wide nasal bridge, Hypertelorism OMIM:614485
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, High palate, Atrioven... ORPHA:251071
Clark-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, ... OMIM:617752
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Epicanthus, Depressed nasal bridge, Anteverted nares, Proximal placement of th... ORPHA:1825
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Hyperte... OMIM:605282
Pierpont Syndrome
Short neck, Deeply set eye, Widely spaced teeth, Short palm, Prominent fingertip pads, Hypertelor... OMIM:602342
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Depressed nasal br... ORPHA:137834
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Microcephaly, Orofacial cleft ORPHA:3434
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... ORPHA:950
Chromosome 22Q11.2 Duplication Syndrome
High palate, Velopharyngeal insufficiency, Depressed nasal ridge, Micrognathia OMIM:608363
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Ptosis, Hypertelorism, Short neck, Hyper... ORPHA:710
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Intellectual Developmental Disorder, Autosomal Recessive 44
Depressed nasal bridge, Anteverted nares, Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... OMIM:614078
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
22Q11.2 Duplication Syndrome
Epicanthus, Wide nose, Ventricular septal defect, Hearing impairment, Micrognathia, Urethral sten... ORPHA:1727
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Anteverted nares, Tapered finger, Broad nasal tip, Kyphosis, Th... OMIM:300602
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Synophrys, Wide mouth, Deeply set eye,... ORPHA:2429
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, U... ORPHA:2001
Hall-Riggs Syndrome
Delayed eruption of teeth, Epicanthus, Anteverted nares, Abnormal dental enamel morphology, Promi... ORPHA:2107
Sprengel Deformity
Cleft palate ORPHA:3181
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Narrow nasal bridge, Ptosis, Brachydactyly, Mandibular prognathia, Hyperlordosis, Abnormal thumb ... ORPHA:2511
Periodontal Ehlers-Danlos Syndrome
Premature loss of primary teeth, Micrognathia, Gingival overgrowth, Agenesis of permanent teeth, ... ORPHA:75392
Frontonasal Dysplasia 1
Ptosis, Epicanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypertelorism, Postaxial ... OMIM:136760
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Broad nasal tip, Bifid ... ORPHA:370010
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Anodontia, Depressed nasal bridge, Sandal gap, Proximal placement of th... ORPHA:90650
Microphthalmia With Limb Anomalies
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n... ORPHA:1106
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Ptosis, Epicanthus, Down-sloping shoulders, Abnormality of the nose, Carious teeth, Synophrys, Sc... ORPHA:1390
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, Preax... OMIM:615948
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Upturned corners of mouth, Hypertelorism, Small hand, Wide nasal bridge... OMIM:614684
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Exaggerated cupid's bow, Abnormal dental morph... ORPHA:2025
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus,... ORPHA:1794
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide nose, Prominent nose, Broad nasal tip, Bulbous nose, Cupped ear, W... OMIM:617982
Chung-Jansen Syndrome
Epicanthus, Anteverted nares, Tapered finger, Hypertelorism, Micrognathia, Synophrys, Upslanted p... OMIM:617991
Intellectual Developmental Disorder, X-Linked 90
Malar flattening, High palate, Bifid uvula OMIM:300850
Cornelia De Lange Syndrome 2
Smooth philtrum, Ptosis, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Prox... OMIM:300590
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm... ORPHA:1277
Mitochondrial Complex I Deficiency, Nuclear Type 36
Periventricular leukomalacia, Cardiomegaly, Perimembranous ventricular septal defect, Microcephaly OMIM:619170
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal f... ORPHA:163649
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Epicanthus, Sacral dimple, Single transverse palmar crease, Prominent n... OMIM:613544
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Hypertelorism, Sp... ORPHA:263463
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Thick upper lip... ORPHA:163654
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Hypertelorism, Tarsal osteovalgus, Finger clinodactyly, Deeply set eye, Short phil... OMIM:614257
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Long phil... ORPHA:438178
Orofaciodigital Syndrome Type 14
Epispadias, Partial agenesis of the corpus callosum, Aplasia of the epiglottis, Lobulated tongue,... ORPHA:434179
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Micrognathia, Long eyelashes, Short nose, Spina bifida oc... ORPHA:1514
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Downturned corners of mo... ORPHA:1327
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... OMIM:618779
Ring Chromosome 6 Syndrome
Epicanthus, Hypertelorism, Short neck, Wide nasal bridge, Short distal phalanx of finger ORPHA:1448
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Bulbous nose, Wide mouth, Macroglossia, Upslanted palpebral fissure, Ever... OMIM:616789
Chime Syndrome
Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morp... ORPHA:3474
Nicolaides-Baraitser Syndrome
High, narrow palate, Abnormal finger morphology, Short palm, Thick nasal alae, Anteverted nares, ... ORPHA:3051
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Trichorhinophalangeal Syndrome, Type Iii
Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal alae, Avascular... OMIM:190351
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Depressed nasal bridge, Lumbar hyperlordosis, Fla... OMIM:146000
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Codas Syndrome
Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Depressed nasal ... ORPHA:1458
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... OMIM:611717
Filippi Syndrome
Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Wide nasal bridge... OMIM:272440
Arthrogryposis, Distal, Type 2E
Microcephaly, Micrognathia, Trismus, Mild microcephaly, Narrow mouth OMIM:121070
Leri Pleonosteosis
Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormally straight spine... ORPHA:2900
Summitt Syndrome
Finger syndactyly, Wide nose, Epicanthus, Camptodactyly of finger, Hypertelorism, Depressed nasal... ORPHA:3210
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Monosomy 5P
Microretrognathia, Finger syndactyly, Epicanthus, Hypertelorism, Short neck, Small hand, Wide nas... ORPHA:281
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Micrognathia, High palate, Long philtrum ORPHA:2598
Gand Syndrome
Long toe, Thin upper lip vermilion, Broad nasal tip, Hypertelorism, Long fingers, Wide nasal brid... OMIM:615074
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Epicanthus, Accessory oral frenulum, Hypertelorism, Osteolysis involving bones of the... ORPHA:88630
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Narr... OMIM:618435
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Braddock-Carey Syndrome 1
Anteriorly placed anus, Sparse hair, Agenesis of corpus callosum, Multicystic kidney dysplasia, A... OMIM:619980
Joubert Syndrome 18
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular sept... OMIM:614815
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ureteral duplication, Ventricular septal defect, Micrognathia,... ORPHA:1926
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Sandal gap, Prominent nose, Hype... ORPHA:2180
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Thin lower lip vermilion... ORPHA:363444
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Epicanthus, Rhizomelia, Anteverted nares, Abnormal dental ename... ORPHA:1515
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Brachydactyly, Telecanthus, Hypertelorism, Synophrys, Anosmia, Genu val... ORPHA:1295
Intellectual Developmental Disorder, Autosomal Recessive 45
Anteverted nares, Highly arched eyebrow, Hypertelorism, Bulbous nose, Synophrys, Wide nasal bridg... OMIM:615979
Intellectual Disability, Wolff Type
Microretrognathia, Camptodactyly of finger, Hypertelorism, Bulbous nose, Thick lower lip vermilio... ORPHA:3080
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Epicanthus, Abnormal intervertebral disk morphology, Anteverted nares, Hypertelorism, Carious tee... ORPHA:2701
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Hypertelorism, Micrognathia, Wide nasal bridge, B... OMIM:618577
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Deeply set eye, Hypoplasia o... OMIM:257850
Weyers Acrofacial Dysostosis
Conical tooth, Postaxial hand polydactyly, Hypotelorism, Postaxial foot polydactyly, Solitary med... OMIM:193530
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue nodules, Postaxial foot pol... OMIM:258850
Even-Plus Syndrome
Epiphyseal dysplasia, Atrial septal defect, Recurrent urinary tract infections, Highly arched eye... OMIM:616854
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... OMIM:112800
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... ORPHA:439822
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Hypertelorism, Tapered finger, Kyphosis, Large hands, Oligodontia, Everted lower lip v... ORPHA:276630
3Mc Syndrome 2
Limited elbow movement, Partial abdominal muscle agenesis, Downturned corners of mouth, High pala... OMIM:265050
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, S... OMIM:618828
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Micrognathia, Preaxial polydactyly, High palate, Atrial septal defect, M... OMIM:618142
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... ORPHA:2167
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Patent ductus ar... ORPHA:3241
Intellectual Developmental Disorder, Autosomal Dominant 26
Decreased palmar creases, Micrognathia, Deep philtrum, Short philtrum, Clinodactyly of the 5th fi... OMIM:615834
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... ORPHA:3258
Cleft Soft Palate
Cleft soft palate OMIM:119570
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Muenke Syndrome
Ptosis, Broad hallux, Malar flattening, Hypertelorism, Capitate-hamate fusion, Dental malocclusio... OMIM:602849
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Long nose, Wide na... OMIM:619995
Tetralogy Of Fallot
Abnormal nasal morphology, Thin vermilion border, Proptosis, Clinodactyly of the 5th finger, Brac... ORPHA:3303
20Q11.2 Microdeletion Syndrome
Brachydactyly, Hypertelorism, Finger clinodactyly, Deeply set eye, Short philtrum, Camptodactyly,... ORPHA:444051
2q37 monosomy
Deeply set eye, Thin upper lip vermilion, Brachydactyly DECIPHER:44
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Hypertelorism, ... ORPHA:377
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Epicanthus, Depressed nasal bridge, Hypertelorism, Kyphosis, Hip dislocation, Small hand, Short f... OMIM:300434
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low anterior hairline, Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial sept... OMIM:220500
Marshall-Smith Syndrome
Irregular dentition, Brittle hair, Large sternal ossification centers, Synophrys, Distal widening... OMIM:602535
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Wide nose, Short nose, Hypertelorism OMIM:125700
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... OMIM:620135
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... ORPHA:166272
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Prominent nose, Micrognathia, Flexion contracture, ... ORPHA:261290
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Prominent nasal ... ORPHA:401935
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ... OMIM:179613
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Abnormal social behavior ORPHA:436151
Nemaline Myopathy 9
Ventricular septal defect, High palate, Cleft palate, Micrognathia OMIM:615731
Liang-Wang Syndrome
Thin upper lip vermilion, Hypertelorism, Diastema, Synophrys, Wide nasal bridge, Gingival overgro... OMIM:618729
3Q13 Microdeletion Syndrome
Epicanthus, Anteverted nares, Abnormality of the hand, Hypertelorism, Short neck, Wide nasal brid... ORPHA:1621
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly ... OMIM:280000
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypertelorism, Delayed epiphyseal ossification, Wide nasal bridge, Triangular mouth, Genu valgum,... ORPHA:166024
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... OMIM:613443
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... OMIM:619472
Fetal Valproate Spectrum Disorder
Epicanthus, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mou... ORPHA:1906
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... OMIM:618804
20P13 Microdeletion Syndrome
Finger syndactyly, Telecanthus, Tented upper lip vermilion, Thin upper lip vermilion, Prominent n... ORPHA:313781
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micrognathia, Short palm, Micropenis, Hypospadias, Anteverted nares, Depressed nasal bridge, Pate... ORPHA:171839
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Truncus arteriosus, Ven... OMIM:615583
Mosaic Trisomy 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Orofacial cleft, Renal cyst, Fi... ORPHA:1692
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Prea... ORPHA:3098
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Narrow greater sciatic notch,... OMIM:312870
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,... ORPHA:457395
Neu-Laxova Syndrome 1
Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ... OMIM:256520
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... OMIM:211369
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Anteverted nares, Underdeveloped nasal alae, Micrognat... OMIM:619941
Trigonocephaly 1
Epicanthus, High, narrow palate, Synophrys, Wide nasal bridge, Hypotelorism, Upslanted palpebral ... OMIM:190440
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Mesomelic Limb Shortening And Bowing
Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shortening, Retrognathia OMIM:249710
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Prominent fingertip pads, Anteverted nares, Broad hallux, Cleft soft palate, Hypert... OMIM:618529
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Miller-Dieker Syndrome
Epicanthus, Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5... ORPHA:531
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Abnormal sacrum morphol... ORPHA:93262
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... OMIM:620107
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... OMIM:601322
Temtamy Syndrome
Telecanthus, Hypertelorism, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Clino... ORPHA:1777
Ruvalcaba Syndrome
Ptosis, Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia... ORPHA:3121
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Distal Deletion 1Q
Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Thin vermilion border, Smo... ORPHA:36367
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Depressed nasal bridge, Ant... OMIM:616331
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Short ne... ORPHA:1914
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Hypotelorism, Clinodactyly ... OMIM:614701
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Faciocardiomelic Syndrome
Telecanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Cuboid-shaped vertebral bodi... OMIM:612731
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mouth, Delayed er... OMIM:618506
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Trisomy 9P
Sacral dimple, Bilateral single transverse palmar creases, Dental crowding, Hypertelorism, Abnorm... ORPHA:236
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... ORPHA:3237
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Epicanthus, Depressed nasal bridge, Hypertelorism OMIM:616911
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Hypertelorism, Broad nasal tip, Malar flattening, Short nose, Retrognathia, Downslanted palpebral... OMIM:613670
Fraser Syndrome
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Orofacial cleft, Urethral atresia, Malforme... ORPHA:2052
Orofaciodigital Syndrome Xi
Bulbous nose, Wide nasal bridge, Cleft palate OMIM:612913
Burn-Mckeown Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, Short philtrum, Atrial septal defect, Conduc... OMIM:608572
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Synophrys, Protruding ear, Downturned corners of mouth, High pal... OMIM:618950
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Telec... OMIM:617102
Lowry-Maclean Syndrome
Delayed eruption of teeth, Abnormal heart morphology, Cleft palate, Microcephaly OMIM:600252
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Wi... ORPHA:2863
Roifman Syndrome
Hip contracture, Short metacarpal, Thin upper lip vermilion, Anteverted nares, Single transverse ... OMIM:616651
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnor... ORPHA:294975
Char Syndrome
Distal/middle symphalangism of 5th finger, Highly arched eyebrow, Broad nasal tip, Hypertelorism,... OMIM:169100
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Short metacarpal... OMIM:616723
Peroxisome Biogenesis Disorder 6A (Zellweger)
Wide nasal bridge, Renal cyst, Epiphyseal stippling, Colpocephaly, Low-set ears, Neonatal death OMIM:614870
Keipert Syndrome
Broad hallux phalanx, Ptosis, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Short h... ORPHA:2662
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Emery-Nelson Syndrome
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... ORPHA:1927
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Absent or minimally ossified vertebral... ORPHA:93271
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Micrognathia, Broad hallux, Exaggerated cupid's bow, Tapered finger, Hypertelorism, Short toe, Wi... OMIM:618659
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus ORPHA:53372
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Cardiomegaly, Micrognathia, Beaded ribs, Multiple prenatal fractures, Flexion contrac... OMIM:616897
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Open mouth, Upslanted palpebral fissure, Deeply set eye, Short ... ORPHA:228384
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Prominent nasal bridge, Abnormality of the dentition, Carious teeth... ORPHA:3270
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Agammaglobulinemia 5, Autosomal Dominant
Epicanthus, High palate, Hypertelorism OMIM:613506
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highl... OMIM:600325
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Orofacial cleft, Aplasia/Hypoplasia of the tibia, Long penis, Abnormal r... ORPHA:1988
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Telecanthus, Hyper... OMIM:218400
Snijders Blok-Campeau Syndrome
Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal defect, Macrocep... OMIM:618205
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Hypertelorism... ORPHA:884
Tricuspid Atresia
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Cleft palate, Micrognathia OMIM:183700
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, Renal cyst, Choanal stenosis, Neonatal death, Clinodactyly of th... OMIM:236500
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate, Aplasia/Hypoplasia of the corpus ca... ORPHA:217
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Ectropion of lower eyelids, Preaxial polyda... OMIM:614976
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Atria... OMIM:605130
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Missing ribs, Micrognathia, Tetralogy of Fallot, Cleft palate, Double ... OMIM:220210
Roifman Syndrome
Narrow nasal bridge, Hip contracture, Brachydactyly, Epiphyseal dysplasia, Thin upper lip vermili... ORPHA:353298
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Coarctation of aorta, Joint hyperfle... ORPHA:261243
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... ORPHA:1858
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... OMIM:154780
Familial Scaphocephaly Syndrome, Mcgillivray Type
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Open bite, Upslanted ... ORPHA:168624
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr... OMIM:314390
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Temple-Baraitser Syndrome
Wide nose, Epicanthus, Depressed nasal bridge, Broad hallux, Proximal placement of thumb, Hyperte... OMIM:611816
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Trisomy 4P
Smooth philtrum, Depressed nasal bridge, Camptodactyly of finger, Hypertelorism, Abnormality of t... ORPHA:1738
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Microcephaly, Cleft palate, Hydranencephaly, Truncus arteriosus, Short... OMIM:601355
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Secondary microce... OMIM:614326
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition ORPHA:3104
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... OMIM:614744
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Single transverse palmar crease, Micrognathia, Synophrys, Oligodontia, High pala... OMIM:617061
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Malar flattening OMIM:184840
Distal Deletion 10Q
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Func... ORPHA:96148
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Non-Distal Deletion 10Q
Ptosis, Brachydactyly, Epicanthus, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Cli... ORPHA:1581
Blepharocheilodontic Syndrome 2
Lagophthalmos, Hypertelorism, Conical tooth, Cleft lip, Ectropion of lower eyelids, Cutaneous syn... OMIM:617681
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Mi... OMIM:241800
Acrofrontofacionasal Dysostosis
Ptosis, Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Hypertelorism, Non-m... ORPHA:1784
Intellectual Developmental Disorder, Autosomal Recessive 74
Mandibular prognathia, Prominent nose, Wide nasal bridge, Narrow palate, Brachydactyly OMIM:617169
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max... ORPHA:1540
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Conductive hearing impairment, Chronic otitis media, Abnormal atrial arra... ORPHA:244
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality... ORPHA:521308
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia, Microcephaly, Short thumb, Short middle phalanx of fi... ORPHA:391646
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Freeman-Sheldon Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypertelorism, Abnormality of the dentition, ... ORPHA:2053
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Abno... ORPHA:1035
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Zechi-Ceide Syndrome
Mandibular prognathia, Short metatarsal, Downturned corners of mouth, Oligodontia, Short philtrum... ORPHA:217017
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Sacral dimple, Tented upper lip vermilion, Highly arched eyebrow, Broad nasa... ORPHA:166108
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Epicanthus, Thin upper lip vermilion, Depressed nasal bridge, Bilateral single transverse... ORPHA:444002
Moebius Syndrome
Abnormal nasopharynx morphology, Micrognathia, Short neck, Congenital fibrosis of extraocular mus... OMIM:157900
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Prominent nose, Synophrys, Short philtrum, Atrial septal defect, Pulmonar... OMIM:618316
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... ORPHA:166011
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Epicanthus, Depressed nasal bridge, Hypertelorism, Polydactyly, Short nose, Hypoplastic ischia OMIM:616910
Rubinstein-Taybi Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux phalan... ORPHA:783
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Proptosis, Hypertelorism, Brachydactyly ORPHA:35099
Craniofacial-Deafness-Hand Syndrome
Telecanthus, Ulnar deviation of the hand, Depressed nasal bridge, Hypertelorism, Hypoplasia of th... OMIM:122880
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Highly arched eyebrow, Hypertelorism, Sho... ORPHA:2319
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Dent... OMIM:619719
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Short neck, Synophrys, Short philtrum, Thoracic kyphosis, Tapered finger, Hypertelo... OMIM:620250
Urban-Rogers-Meyer Syndrome
Epicanthus, Toe syndactyly, Abnormality of the philtrum, Prominent nasal bridge, Camptodactyly of... ORPHA:3409
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Posteriorly rotated ear... ORPHA:1780
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Micrognathia, Congenital contracture, Short philtrum, Joint contracture... ORPHA:352490
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Trichothiodystrophy 9, Nonphotosensitive
Epicanthus, Sparse eyebrow, High, narrow palate, Dental malocclusion, Brachydactyly OMIM:619692
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Microcephaly, Micrognathia, Patent ductus arteriosus,... ORPHA:3304
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Hypertelorism, Synophrys, Ups... OMIM:300143
Gillessen-Kaesbach-Nishimura Syndrome
Epicanthus, Ulnar deviation of the hand, Telecanthus, Posteriorly rotated ears, Congenital diaphr... OMIM:263210
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula OMIM:601492
Ohdo Syndrome
Epicanthus, Depressed nasal bridge, Anteverted nares, Blepharophimosis, Sparse eyebrow, Micrognat... OMIM:249620
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ... OMIM:608940
Chromosome 15Q26-Qter Deletion Syndrome
Micrognathia, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovarus, Blepharophi... OMIM:612626
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Trisomy 12P
Epicanthus, Hypertelorism, Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned ... ORPHA:1699
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... OMIM:177170
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Orofacial cleft, Micropenis, Agenesis of corpus callosum, Anteverted nares... OMIM:243310
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasi... ORPHA:1166
Anauxetic Dysplasia 1
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Lumbar hyperlordos... OMIM:607095
Hamel Cerebro-Palato-Cardiac Syndrome
Microcephaly, Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening ORPHA:93946
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate OMIM:201550
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Abnormal eyelash morphology, Abnormality of the dentition, Postaxia... ORPHA:1702
Ring Chromosome 14 Syndrome
Epicanthus, Anteverted nares, Depressed nasal bridge, Hypertelorism, Almond-shaped palpebral fiss... OMIM:616606
Dysostosis, Stanescu Type
Micromelia, Short neck, Hypoplasia of the maxilla, Abnormal dental enamel morphology, Hypertelori... ORPHA:1798
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Single transverse palmar crease, Clinodactyly, Flexion contracture, Abnorm... ORPHA:391372
8Q12 Microduplication Syndrome
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, ... ORPHA:228399
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop... OMIM:614524
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Prominent nasal bridge, Cleft palate ORPHA:85273
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coron... OMIM:118651
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finger, Depressed nasal bridge, Bro... OMIM:620073
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge... ORPHA:1716
Intellectual Developmental Disorder, Autosomal Dominant 21
Epicanthus, Sacral dimple, Single transverse palmar crease, Hypertelorism, Cleft palate, Thin ver... OMIM:615502
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, High palate, Tho... OMIM:300232
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Micrognathia, Tubulointerstitial nephritis, Widely spaced teeth, Atrial septal defect, Agenesis o... ORPHA:459061
3C Syndrome
Hypoplasia of penis, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve... ORPHA:7
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Single transve... OMIM:616788
Fg Syndrome 5
Epicanthus, Depressed nasal bridge, Anteverted nares, Diastema, Upslanted palpebral fissure, Long... OMIM:300581
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Clinodactyly, Low anterior hairline, Downturned corners of mouth, High pal... ORPHA:369891
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Hypertelorism, Wide nasal ... OMIM:615716
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Epicanthus, Anteverted nares, Dental crowding, Kyphoscoliosis, Bulbous... OMIM:616354
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum ORPHA:90653
Pentasomy X
Camptodactyly of finger, Hypertelorism, Micrognathia, Small hand, Wide nasal bridge, Short foot, ... ORPHA:11
Childhood Disintegrative Disorder
Social and occupational deterioration, Seizure, Dementia, Progressive language deterioration, Imp... ORPHA:168782
Joubert Syndrome 14
Tented upper lip vermilion, Renal cyst, Intracranial hemorrhage, Short philtrum, Dandy-Walker mal... OMIM:614424
Orofaciodigital Syndrome Iv
Epicanthus, Toe syndactyly, Postaxial polydactyly, Hypertelorism, Micrognathia, Accessory oral fr... OMIM:258860
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia o... ORPHA:2476
Peroxisome Biogenesis Disorder 12A (Zellweger)
Epicanthus, Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Hydrocephalus... OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Taper... OMIM:618825
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Mi... OMIM:612474
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye,... OMIM:615984
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Depressed nasal bridge, Hypertelorism, Elbow dislocation, Micrognathia... ORPHA:93328
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Brachydactyly, Wide nose, Ventricular septal defect, Hearing impairment, Hy... OMIM:614261
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Mcdonough Syndrome
Mandibular prognathia, Bilateral single transverse palmar creases, Underdeveloped nasal alae, Pro... ORPHA:2471
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Telecanthus, Prominent nasal bridge, Camptodactyly of fi... OMIM:148820
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Epicanthus, Depressed nasal bridge, Thickened helices, Hypoplasia of the ma... ORPHA:261295
C Syndrome
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An... OMIM:211750
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... OMIM:618363
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Recon Progeroid Syndrome
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Joint laxity, Arachnodac... OMIM:620370
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Ascher Syndrome
Wide nose, Abnormal eyelid morphology, Hypertelorism, Upper eyelid edema, Deviation of finger, Ab... ORPHA:1253
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Abnormal number of incisors, Coxa valga, Prominent nose, Hypertelorism, Finger clinod... ORPHA:2958
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Prominent nose, Synophrys, Camp... OMIM:300280
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... OMIM:614753
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, High palate, Bifid uvula, Median cleft lip OMIM:155145
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Flat ace... OMIM:184260
Mosaic Trisomy 14
Ptosis, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Hypertelorism, Microgn... ORPHA:1703
Craniosynostosis 3
Hallux valgus, Brachydactyly, Single transverse palmar crease, Dental malocclusion, Ptosis OMIM:615314
Tetrasomy 18P
Epicanthus, Narrow mouth, Large hands, Thin vermilion border, Scoliosis, Long philtrum, Short nos... ORPHA:3307
Orofaciodigital Syndrome Xv
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... OMIM:617127
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular ... OMIM:271510
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, T... OMIM:618829
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Conductive ... OMIM:611209
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Oligodontia, Thick ve... OMIM:617392
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Anencephaly 2
Median cleft lip, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge OMIM:619452
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... OMIM:305400
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Depressed nasal bridge, Anteverted nare... OMIM:313420
Bamforth-Lazarus Syndrome
Retrognathia, Choanal atresia, Cleft palate ORPHA:1226
Orofaciodigital Syndrome Viii
Syndactyly, Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypertelorism, Cleft... OMIM:300484
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Trisomy 1Q
Congenital diaphragmatic hernia, Agenesis of corpus callosum, Microretrognathia, Multicystic kidn... ORPHA:261344
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Temple-Baraitser Syndrome
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas... ORPHA:420561
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Micrognathia, Cleft palate, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:616570
Perlman Syndrome
Epicanthus, Anteverted nares, Bilateral single transverse palmar creases, Micrognathia, High, nar... ORPHA:2849
Bamforth-Lazarus Syndrome
Cleft palate, Bilateral choanal atresia OMIM:241850
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, High, narrow palate, Deep phil... OMIM:158170
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Sandal gap, Posteriorly rotated ears, Highly arched e... OMIM:300887
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Anteriorly placed anus, Atrial septal defect, Prominent fingertip pads, Pate... OMIM:618494
Peho-Like Syndrome
Epicanthus, Tapered finger, Short nose, Retrognathia, Open mouth OMIM:617507
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Micropenis... OMIM:146510
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress... OMIM:616809
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Flattened epiphysis, Ul... OMIM:222600
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Downturned corners of mouth, De... OMIM:300882
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Telecanthus, Hypertelorism, Preaxial han... ORPHA:380
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... OMIM:151200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... ORPHA:364577
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Synophrys, High palate, Atrial sep... ORPHA:363528
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Thin upper lip vermilion, Dental crowding, Sparse lateral eyebrow, Brachydactyly OMIM:618879
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Underdeveloped nasal alae, Micrognathia, Diastema, Short neck, Dental malocclusion, Upslanted pal... ORPHA:436245
Prieto Syndrome
Epicanthus, Coxa valga, Prominent nose, Hypertelorism, Abnormality of the dentition, Talipes equi... OMIM:309610
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal ... OMIM:615524
Osteoglophonic Dysplasia
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Ptosis, Wide nose, Sandal gap, Arachnodactyly, Depressed nasal bridge, ... OMIM:616938
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Laryngotracheomalaci... OMIM:618454
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Ptosis, Arachnodactyly, Micrognathia, Long nose, Malar prominence, Cone-shaped epiphysis, Palmopl... ORPHA:2824
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, N... OMIM:311900
Kury-Isidor Syndrome
Finger syndactyly, Ptosis, Tented upper lip vermilion, Anteverted nares, Rocker bottom foot, Prox... OMIM:619762
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Anteverted nares, Downturned corners of mouth, Slender long bone, Proptosis, Thick ve... ORPHA:1185
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dislocated radi... OMIM:612350
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Epicanthus, Sacral dimple, Underdeveloped nasal alae, Hypertelorism, Micrognathia, Short neck, Wi... ORPHA:1516
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... ORPHA:464738
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Stickler Syndrome, Type Ii
Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Pierre-Robin sequenc... OMIM:604841
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Single transverse palma... OMIM:619720
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, High, narrow palate, Synophrys, Deeply set eye, High palate, Short... OMIM:619312
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Broad eyebrow, Short metacarpal, Depressed nasal bridge, Thoracolumb... OMIM:618853
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Abnormality of the upper... ORPHA:2145
Chand Syndrome
Curly hair, Short fifth metatarsal, Hydroureter, Depressed nasal bridge, Cleft palate, Agenesis o... ORPHA:1401
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Aplasia/Hypoplasia of the distal phalanges o... ORPHA:1234
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypertelorism, ... OMIM:167730
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa... ORPHA:56304
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... ORPHA:245
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Depressed nasal ri... OMIM:613885
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic... OMIM:300558
Tonne-Kalscheuer Syndrome
Prominent nasal bridge, Prominent nose, Hypertelorism, Micrognathia, Velopharyngeal insufficiency... OMIM:300978
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Hypertelorism, Micrognathia, Synophr... ORPHA:357175
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Depressed nasal bridge, Hypertelorism, Scoliosis, Narrow mouth, Wide... ORPHA:94065
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Ectopic kidney, High, n... OMIM:122470
Intellectual Developmental Disorder With Neuropsychiatric Features
Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Thin vermilion border, Downslanted ... OMIM:617532
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal... ORPHA:2750
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme... ORPHA:2639
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Smooth philtrum OMIM:611867
Kbg Syndrome
Single transverse palmar crease, Short neck, Synophrys, Finger clinodactyly, Widely-spaced maxill... ORPHA:2332
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Prominent nose, Micr... ORPHA:435638
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Sparse hai... OMIM:614091
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Hypertelorism, Broad nasal ti... OMIM:137550
16P12.1P12.3 Triplication Syndrome
Unilateral ptosis, High, narrow palate, Abnormal tricuspid valve morphology, Atrial septal defect... ORPHA:485405
Abruzzo-Erickson Syndrome
Epicanthus, Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Conductive hearing impai... ORPHA:921
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Fountain Syndrome
Synophrys, Abnormal form of the vertebral bodies, Spina bifida occulta, Hypertelorism, Gingival o... ORPHA:3219
Restrictive Dermopathy
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Atrial septal defect... ORPHA:1662
Hadziselimovic Syndrome
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Anteverted nares, Prominent nasal... OMIM:612946
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph... ORPHA:1427
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Abnormal eyelid morphology, Hypertelorism, Carious teeth, Conical tooth, Ectro... ORPHA:1997
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Hypos... OMIM:614175
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Hypertelorism, Micrognathia, Synophr... OMIM:615162
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Bicuspid aortic valve, Proximal placement of thumb, Micrognathia, Single transvers... OMIM:610759
Kabuki Syndrome 2
Micrognathia, Protruding ear, High palate, Atrial septal defect, Prominent fingertip pads, Atriov... OMIM:300867
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... OMIM:612292
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Short neck, Deeply set eye, High palate, Spina bifida occ... OMIM:193700
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Pierpont Syndrome
Thin upper lip vermilion, Telecanthus, Wide nasal ridge, Hypertelorism, Short neck, Short toe, Br... ORPHA:487825
Treacher Collins Syndrome 4
Malar flattening, Choanal stenosis, Cleft palate, Micrognathia OMIM:618939
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Ventricular septal defect, Craniosynos... OMIM:250410
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Micrognathia, Clinodactyly, Anteriorly placed anus, Downturned corne... OMIM:217980
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate, Conductive ... OMIM:102500
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Trisomy 20P
Micrognathia, Low anterior hairline, Protruding ear, Downturned corners of mouth, Reduced bone mi... ORPHA:261318
W Syndrome
Hypoplasia of the ulna, Telecanthus, Radial bowing, Depressed nasal bridge, Broad uvula, Broad na... ORPHA:2804
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Osteoglosphonic Dysplasia
Rhizomelia, Anteverted nares, Choanal atresia, Hypertelorism, Micrognathia, Abnormal form of the ... ORPHA:2645
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... OMIM:617201
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel... ORPHA:93329
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Synophrys, Genu valgum, Downturned corners of mouth, Deeply set eye, Thin v... ORPHA:2983
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Abnormal distal phalanx morpholog... ORPHA:2673
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Telecanthus, Arachnodactyly, Dental crowding, Hypertelorism, Narrow mouth, Long philtrum, Bilater... OMIM:615539
Oculodentodigital Dysplasia
Mandibular prognathia, Brittle hair, Micrognathia, Abnormality of the ear, Clinodactyly of the 5t... ORPHA:2710
Developmental And Epileptic Encephalopathy 87
Single transverse palmar crease, Prominent nose, Hypertelorism, Bulbous nose, Hypotelorism, Wide ... OMIM:618916
Atkin-Flaitz Syndrome
Anteverted nares, Hypertelorism, Abnormality of the dentition, Broad nasal tip, Everted lower lip... ORPHA:1193
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Sy... ORPHA:261494
Distal Deletion 9P
Epicanthus, Hypertelorism, Abnormality of the dentition, High, narrow palate, Short neck, Wide na... ORPHA:1642
Frontofacionasal Dysplasia
Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Limbal d... ORPHA:1791
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Multiple palmar creases, Blepharophimosis, Short nose, Downslant... OMIM:611936
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridge, Short thumb, B... OMIM:165800
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... OMIM:618821
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars... OMIM:614613
Rafiq Syndrome
Smooth philtrum, Thin upper lip vermilion, Wide nose, Highly arched eyebrow, Prominent nose, Spar... OMIM:614202
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Hypertelorism, Cleft upper lip, Short neck, Cleft palate,... OMIM:244600
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly OMIM:618618
Char Syndrome
Toe syndactyly, Depressed nasal bridge, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, H... ORPHA:46627
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Hypertelorism, Short neck, Long fingers, Bullet-shaped d... ORPHA:1617
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... OMIM:613330
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... OMIM:616007
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Anosmia, Cleft palate OMIM:612370
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Blepharophimosis, Hypoplastic ilia... ORPHA:93333
Mosaic Variegated Aneuploidy Syndrome 1
Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Agenesis of corpus callosum, Dandy-Wa... OMIM:257300
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Depressed na... OMIM:608156
Bohring-Opitz Syndrome
Micrognathia, Flexion contracture, Low anterior hairline, Atrial septal defect, Vesicoureteral re... OMIM:605039
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Short neck, Synophrys, Hypotelorism, Downturned corners of mouth, Oligodontia, Shor... ORPHA:391408
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... OMIM:218000
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capital femoral epiphys... OMIM:215150
Shashi-Pena Syndrome
Synophrys, Atrial septal defect, Short metacarpal, Highly arched eyebrow, Patent ductus arteriosu... OMIM:617190
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, High palate, Atrial septal defect, Clinodactyly of t... OMIM:612582
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Hypertelorism, Synophrys, Wide nasal bridge, Downturned corners of mout... OMIM:618067
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... OMIM:614669
Atelosteogenesis, Type Ii
Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around... OMIM:256050
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Zaki Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Short philtrum, Patent foramen ovale,... OMIM:619648
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Protruding ear, High palate, Atrial septal defect, Highly arched eyebrow, Ta... OMIM:617452
Genitopatellar Syndrome
Prominent nose, Micrognathia, Knee flexion contracture, Short palm, Atrial septal defect, Agenesi... ORPHA:85201
Aarskog-Scott Syndrome
Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac... ORPHA:915
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micromelia, Prominent nose, Long nose, Micrognathia, Sho... ORPHA:2636
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Cohen Syndrome
Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar crease, Prom... OMIM:216550
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Atrial sep... ORPHA:79113
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Epicanthus, Telecanthus, Overlapping toe, Ventricular septal defect, Depres... OMIM:618974
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Synophrys, Deep philtrum, Pi... OMIM:618381
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... OMIM:619503
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Highly arched ey... OMIM:145420
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo... ORPHA:2916
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Proximal placement of thumb, Long nose, Synophrys, Partial agenesis of the corpus callosum, High ... OMIM:620113
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Microretrognathia, Scapu... OMIM:618870
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Synophrys, Hydroc... ORPHA:1895
Li-Campeau Syndrome
Telecanthus, Ventricular septal defect, Single transverse palmar crease, Patent foramen ovale, Pa... OMIM:619189
Coffin-Siris Syndrome 6
Epicanthus, Depressed nasal bridge, Kyphoscoliosis, Broad nasal tip, Micrognathia, High, narrow p... OMIM:617808
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal ma... ORPHA:2166
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Selective tooth agenesis, Conical tooth, Absent middle phalanx of 5th finger, Tri... OMIM:124480
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Generalized joint laxity, Tibial b... ORPHA:251028
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth,... ORPHA:1786
Martsolf Syndrome 1
Enlarged sylvian cistern, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anter... OMIM:212720
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospad... ORPHA:1358
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Rec... OMIM:615993
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Pterygium, Encephalocele, Wide... ORPHA:1865
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Abnormality of th... ORPHA:3201
Oculodentodigital Dysplasia
Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial sept... OMIM:164200
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... OMIM:616898
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Cleft upper lip, Short thumb, P... OMIM:612561
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Anteverted nares, Hypertelorism, Hip dislocation, Wide n... OMIM:615155
Chromosome 16Q22 Deletion Syndrome
Epicanthus, Broad hallux, Single transverse palmar crease, Depressed nasal bridge, Highly arched ... OMIM:614541
Chromosome 19Q13.11 Deletion Syndrome, Distal
Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Sparse... OMIM:613026
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Short nose, High palate, Micrognathia OMIM:615042
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Malar flattening, Hypertelorism, Long nose, Bilateral ptosis, Shallo... OMIM:180750
Eng-Strom Syndrome
Camptodactyly of finger, Scoliosis, Brachydactyly ORPHA:1937
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Blepharophimos... ORPHA:2031
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypertelorism, Cleft upper lip, Short neck, Synophrys, Wide nasal bridge, Hypotelorism, Downturne... OMIM:613192
Absent Eyebrows And Eyelashes With Mental Retardation
Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge OMIM:200130
Chromosome 2Q37 Deletion Syndrome
Short fourth metatarsal, Wide nose, Depressed nasal bridge, Anteverted nares, Short metacarpal, B... OMIM:600430
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, High palate, Atrial septal defect, Arachnodactyly, Highl... ORPHA:505237
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Deep philtrum, Downturned corners... ORPHA:251014
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Agenes... OMIM:277170
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Hooded eyelid, Multiple joint contractures, Microgna... ORPHA:96170
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Diprosopus
Non-midline cleft lip, Cleft palate, Abnormality of the nose ORPHA:1681
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Bilateral superior ve... OMIM:605376
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Unilateral narrow palpebra... OMIM:618727
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Atrial septal defect, Microd... OMIM:617360
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... OMIM:302950
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Single transverse palmar crease, Micrognathia, Secundum atrial septal defect, Deep philtrum, Shor... OMIM:619951
Atelosteogenesis Type I
Telecanthus, Short femur, Rhizomelia, Hypertelorism, Micrognathia, Abnormal ossification involvin... ORPHA:1190
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, High palate, Short... OMIM:616449
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Tented upper lip vermilion, Flexion contracture, High palate, Atrial septal defect, Broad columel... OMIM:619383
Aredyld Syndrome
Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental enamel morphol... ORPHA:1133
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... ORPHA:2631
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Prominent nose, Bulbous nose, Retrognathia, Depressed nasal tip, Short philtru... ORPHA:293725
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Widely space... OMIM:106260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ... OMIM:239300
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Hypertelorism, Micrognathia, Carious teeth, Hypoplastic pubic bone... ORPHA:93346
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Single transverse palmar crease, Prominent nose, Hypertelorism, Micrognathia, Na... OMIM:201170
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Trisomy 13
High, narrow palate, Atrial septal defect, Bilateral single transverse palmar creases, Abnormal e... ORPHA:3378
Blepharocheilodontic Syndrome 1
Choanal atresia, Lagophthalmos, Hypertelorism, Conical tooth, Cleft upper lip, Ectropion of lower... OMIM:119580
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front... ORPHA:436003
Schilbach-Rott Syndrome
Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, Narrow mouth, Bifid uvula OMIM:164220
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Ventricular septal defect, Craniosynos... ORPHA:166035
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Ventricular septal defect, Micrognathia, Microcephaly, Cleft lip, Cleft pala... ORPHA:398156
Holoprosencephaly 7
Alobar holoprosencephaly, Synophrys, Partial agenesis of the corpus callosum, Hypoplastic nasal s... OMIM:610828
Hypomelanosis Of Ito
Syndactyly, Epicanthus, Hypertelorism, Kyphosis, Thick lower lip vermilion, Irregularly spaced te... OMIM:300337
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Malar flatte... OMIM:212780
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Patent foram... OMIM:269860
Baker-Gordon Syndrome
Thin upper lip vermilion, Epicanthus, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum OMIM:618218
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Micrognathia, Finger clinodactyly, High palate, Endocardial fibr... ORPHA:99776
Chromosome 6Q24-Q25 Deletion Syndrome
Hooded eyelid, High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, High pa... OMIM:612863
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Epicanthus, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proxima... ORPHA:261211
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... ORPHA:1135
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Intellectual Developmental Disorder, Autosomal Dominant 59
Sacral dimple, Highly arched eyebrow, Short foot, Long philtrum, Short palm, Long palpebral fissu... OMIM:618522
Lowry-Maclean Syndrome
Osteopenia, Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Hypop... ORPHA:2409
Gabriele-De Vries Syndrome
Micrognathia, High palate, Finger joint hypermobility, Patent foramen ovale, Simple ear, Sparse e... OMIM:617557
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Dental crowding, Hypertelorism, Metaphyseal widening, Flared metaphysis, N... OMIM:123000
Orofaciodigital Syndrome Xvii
Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Pa... OMIM:617926
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... OMIM:228520
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Hypertelorism, Conica... OMIM:619143
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Low anterior hairline, Downtu... OMIM:601808
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Prominent nose, Hypertelorism, Kyphosis, Ab... ORPHA:1005
Distal Duplication 5Q
Hypoplasia of the ulna, Epicanthus, Prominent nasal bridge, Absent thumb, Hypertelorism, Microgna... ORPHA:96097
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Choanal stenosis, M... OMIM:259775
Arthrochalasia Ehlers-Danlos Syndrome
Epicanthus, Depressed nasal bridge, Coxa valga, Avascular necrosis of the capital femoral epiphys... ORPHA:1899
48,Xyyy Syndrome
Epicanthus, Depressed nasal bridge, Hypertelorism, Short neck, Recurrent upper respiratory tract ... ORPHA:99329
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 to... OMIM:609625
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Palpebral edema, Depressed nasal b... ORPHA:261144
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... OMIM:609029
6Q25 Microdeletion Syndrome
Epicanthus, Rocker bottom foot, Camptodactyly of finger, Hypertelorism, Micrognathia, Wide nasal ... ORPHA:251056
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Epicanthus, Overlapping toe, Hypertelorism, Short neck, Cleft lip, Bulbous nos... OMIM:618571
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Ptosis, Wide nose, Depressed nasal bridge, Anteverted nares, Sandal ga... OMIM:614607
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Singl... ORPHA:264450
Pycnodysostosis
Aplastic clavicle, Prominent nose, Micrognathia, Absent frontal sinuses, Persistence of primary t... OMIM:265800
Coffin-Siris Syndrome 3
High palate, Dandy-Walker malformation, Joint laxity, Anteverted nares, Depressed nasal bridge, T... OMIM:614608
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregu... OMIM:612813
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... OMIM:617412
Trichorhinophalangeal Syndrome Type 2
Thin upper lip vermilion, Brachydactyly, Abnormality of the dentition, Avascular necrosis of the ... ORPHA:502
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Shallow orbits, Short palm, Short phalanx of finger, Sh... OMIM:258480
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening ORPHA:166100
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha... ORPHA:1908
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, Cran... OMIM:300373
Fibrochondrogenesis
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing... ORPHA:2021
Noonan Syndrome 13
Micrognathia, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Generalized hi... OMIM:619087
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Long nose, Hypoplasia of ... OMIM:309520
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Cleft palate, Micrognathia OMIM:243440
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet... ORPHA:192
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance... ORPHA:949
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss... OMIM:210710
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Atrial septal defect, Hypospadias, Ventricular septal defect, Patent du... OMIM:618330
Microcephaly-Albinism-Digital Anomalies Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Microcephaly, Short distal phalanx of fin... ORPHA:2513
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... ORPHA:1307
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Renal hypopl... OMIM:246560
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, Synophrys, Downturned corners of mouth, High palate, Depressed nasal bridge, Anteve... OMIM:613792
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Overlapping toe, Hypertelorism, Bilateral ptosis, Cleft palate, High palate, Scoliosis, Malar fla... OMIM:620021
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Rocker bottom fo... ORPHA:3078
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia, Scoliosis OMIM:618379
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Hypertelorism, Cleft ... ORPHA:83
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Prote... OMIM:235510
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Brachydactyly, Single transverse palmar crease, Dental malocc... OMIM:601957
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdontia, Ante... OMIM:619293
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Upslanted palpebral fissure, Deeply set eye, Hip dysplasia, ... OMIM:617183
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... OMIM:301043
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m... ORPHA:2059
Bainbridge-Ropers Syndrome
Arachnodactyly, Prominent nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Long no... ORPHA:352577
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo... OMIM:117650
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Downturned corners of mouth, Short palm, Conductive hearing impa... ORPHA:1001
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia OMIM:614526
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal size of the palpebral fissures, Bicuspid aortic valve, Patent foramen ovale, Joint laxit... ORPHA:500159
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Microcephaly, Esophageal atresia, Abnormal heart morphol... ORPHA:2209
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Hypertelorism, Upslanted palpebral fissure, Narrow palpebral f... OMIM:618087
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormality of the philtrum, Microcephaly, Abnormality of the dentition, Tetra... ORPHA:276422
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Telecanthus, Depressed nasal bridge, Hypertelorism, Wide nasal bridge,... ORPHA:1522
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly OMIM:613382
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Tented upper lip vermilion, Single transverse palmar crease, Synophrys, Atrial septal defect, Spa... OMIM:620075
Alg13-Cdg
Long philtrum, Anteverted nares, Abnormal lateral ventricle morphology, Adducted thumb ORPHA:324422
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Short philtrum, Condu... ORPHA:819
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transver... OMIM:614105
Temtamy Syndrome
Dental crowding, Highly arched eyebrow, Hypertelorism, Micrognathia, Hip dislocation, Hypoplasia ... OMIM:218340
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Medial flaring of the eyebr... OMIM:619833
Rhizomelic Syndrome
Microcephaly, Rhizomelia, Pulmonic stenosis, Micrognathia OMIM:268250
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Wide nose, Epicanthus, Depressed nasal bridge, Anteverted nares, Hypert... OMIM:618027
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Postaxi... ORPHA:2075
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, High, narrow palate, Cleft palate, Abnorma... ORPHA:2516
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Ventriculomegaly, Posteriorly rotated ears, Camptodactyly of finger, Highly ... ORPHA:2083
Microtriplication 11Q24.1
Smooth philtrum, Wide nose, Hypertelorism, Metatarsus adductus, Short neck, Synophrys, Small hand... ORPHA:289522
Distal Triplication 15Q
Micrognathia, Flexion contracture, High palate, Atrial septal defect, Dandy-Walker malformation, ... ORPHA:314588
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Deep philtrum, Renal cyst, Downturned corners of mouth, Nephrocalcinosis, High palate... OMIM:615398
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinoda... OMIM:260660
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Micrognathia, Secundum atrial septal defect, Cerebral atrophy, Progressive mic... OMIM:608779
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Low anterior hairline, Protrud... ORPHA:329224
3-Hydroxyisobutyric Aciduria
Cerebral calcification, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Lo... ORPHA:939
Fryns Syndrome
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... OMIM:229850
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... ORPHA:163966
Auriculocondylar Syndrome 3
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia OMIM:615706
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Bicu... OMIM:616367
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa... OMIM:617602
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Hypertelorism, Short neck, Dacryocystitis, Depressed n... ORPHA:464288
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Sh... OMIM:619356
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Arthrogryposis, Distal, Type 1C
Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris... OMIM:619110
Cerebrofacioarticular Syndrome
Osteopenia, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus,... ORPHA:314679
8P23.1 Duplication Syndrome
Wide nose, Toe syndactyly, Highly arched eyebrow, Hypertelorism, Deeply set eye, Thick vermilion ... ORPHA:251076
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Flexion contr... OMIM:263650
17Q23.1Q23.2 Microdeletion Syndrome
Patellar hypoplasia, Protruding ear, Congenital contracture, Widely spaced teeth, Atrial septal d... ORPHA:261279
Fetal Hydantoin Syndrome
Epicanthus, Hypertelorism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip ver... ORPHA:1912
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia... OMIM:255800
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Prominent nose, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Joint laxity, Depre... OMIM:300968
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... OMIM:615996
Feingold Syndrome
Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Deviation ... ORPHA:1305
Desmosterolosis
Micromelia, Micrognathia, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ... ORPHA:35107
Coffin-Siris Syndrome
Low anterior hairline, Atrial septal defect, Thick nasal alae, Agenesis of corpus callosum, Dandy... ORPHA:1465
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Epicanthus, Sparse eyelashes, Rocker bottom foot, Urinary incontinence, Tap... OMIM:620070
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Ptosis, Depressed nasal bridge, Anteverted nares, Highly arched eyebro... OMIM:615866
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest serration, Metaphyse... OMIM:613320
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia,... OMIM:617866
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Diastrophic Dysplasia
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... ORPHA:628
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Hypertelorism, Craniofa... OMIM:122860
Fg Syndrome Type 1
Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Generalized joint... ORPHA:93932
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Alkuraya-Kucinskas Syndrome
Micrognathia, High palate, Micropenis, Dandy-Walker malformation, Anteverted nares, Depressed nas... OMIM:617822
Cranioectodermal Dysplasia 2
Unilateral ptosis, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Micro... OMIM:613610
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Depressed nasal ridge, Finger syndactyly, Underfolded helix, Highly ar... ORPHA:178303
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Hypoplastic pulm... OMIM:618021
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Al-Raqad Syndrome
Thin upper lip vermilion, Sandal gap, Deeply set eye, Narrow mouth, Short nose, Brachydactyly OMIM:616459
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe,... ORPHA:2886
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypoplasia, Downslanted palpeb... ORPHA:2643
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Abnormal cerebral vascular morphology, Prominent nose, Coxa vara, Hypoplastic iliac w... ORPHA:2637
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... OMIM:612463
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Epispadias, Agenesis of corpus callosum, Bifid uvula, Abno... ORPHA:2461
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Dee... OMIM:613458
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Depress... OMIM:226980
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Sh... OMIM:615777
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra... OMIM:615982
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Osteopo... OMIM:156510
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, Tapered finger, Posteri... OMIM:613870
Pterygium Colli, Isolated
Epicanthus, Short nose OMIM:177990
Monosomy 18P
Epicanthus, Brachydactyly, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Wide nasal br... ORPHA:1598
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures ORPHA:1129
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal... OMIM:108720
Vater/Vacterl Association
Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, T... OMIM:192350
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space... OMIM:601349
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Coxa v... OMIM:608149
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Sandal ... OMIM:618430
Intellectual Developmental Disorder, Autosomal Recessive 5
Smooth philtrum, Telecanthus, Prominent nasal bridge, Underdeveloped nasal alae, Prominent nose, ... OMIM:611091
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Hypertelorism, Abnormal... ORPHA:1597
Autosomal Recessive Amelia
Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ... ORPHA:1027
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Smooth philtrum, Epicanthus, Telecanthus, Posteriorly rotated ears, Ventriculomegaly, Deep philtr... OMIM:617260
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Low-set, posteriorly rotated ears, Hypospadias, Highly arched eyebrow, Tape... ORPHA:261311
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tented upper lip vermilion, Micrognathia, Renal cyst, Bilateral superior ve... OMIM:618460
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Lujan-Fryns Syndrome
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Prominent... ORPHA:776
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia OMIM:619981
Cohen Syndrome
Abnormal eyelid morphology, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Low ant... ORPHA:193
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Renal cyst, High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger, Pat... OMIM:616975
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Ptosis, Epicanthus, Lacrimal duct stenosis, Intestin... ORPHA:457193
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Widely spaced teeth... OMIM:266920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megaco... OMIM:614749
Skraban-Deardorff Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's... OMIM:617616
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Epicanthus, Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Depressed nasal b... ORPHA:1812
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Ventriculomegaly, Camptodactyly of finger, Micrognathia, Optic atrophy, Protruding ear, Narrow mo... ORPHA:1495
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned co... ORPHA:955
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Dental crowding, Long nose, Oligodontia, Short palm, Atrial septal defect, Patent f... OMIM:619184
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Prominent nose, High, narrow palate, Short philtr... ORPHA:3242
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Hypotelorism, Triphalangeal thu... ORPHA:794
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Choanal stenosis, Cleft soft palate OMIM:620183
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Block vertebrae, Proximal placement of thumb, Hia... OMIM:304050
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Deep philtrum, Oligosacchariduria, High palate, Atrial septal defect, Depressed ... ORPHA:397709
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Partial agenesis of the corpus callosum, High palate,... OMIM:117550
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... ORPHA:79345
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Hypertelorism, Short proximal phala... OMIM:616638
Larsen Syndrome
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Hypertelorism, Accessory carpal bones, ... ORPHA:503
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... OMIM:610017
Chromosome 5Q12 Deletion Syndrome
Long toe, Atrial septal defect, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, ... OMIM:615668
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Tented upper lip vermilion, ... ORPHA:438216
Mandibulofacial Dysostosis, Guion-Almeida Type
Proximal placement of thumb, Micrognathia, Deep philtrum, Conductive hearing impairment, Atrial s... OMIM:610536
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Synophrys, Low ... OMIM:213980
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia of the radius,... OMIM:613390
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Heart Defects, Congenital, And Other Congenital Anomalies
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Rhyns Syndrome
Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hearing impairment, Hyp... ORPHA:140976
Frontoocular Syndrome
Atrial septal defect, Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia,... OMIM:605321
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... OMIM:611376
Phelan-Mcdermid Syndrome
Micrognathia, Protruding ear, High palate, Widely spaced teeth, Vesicoureteral reflux, Clinodacty... OMIM:606232
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Ventricular septal defect, Protruding tongue, Diastema, Absent frontal sin... OMIM:301040
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Depressed nasal r... OMIM:618774
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Joint laxity, Hyperextensibility of the finger joints, Hypermobility of toe joints, Thin upper li... ORPHA:488635
Symphalangism, Distal
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... OMIM:185700
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Thoracic a... OMIM:619657
2P15P16.1 Microdeletion Syndrome
Protruding ear, High palate, Bilateral single transverse palmar creases, Multicystic kidney dyspl... ORPHA:261349
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Abnormality of orbicularis oris muscle, Cleft upper lip, D... ORPHA:401942
Intellectual Developmental Disorder, Autosomal Dominant 61
Thin upper lip vermilion, Prominent nasal bridge, Hypertelorism, Synophrys, Wide nasal bridge, Wi... OMIM:618009
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Epicanthus, Arachnodactyly, Camptodactyly of finger, Hypert... ORPHA:2994
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Single transv... OMIM:617425
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, S... OMIM:245600
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th... OMIM:615485
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Upslanted palpebral fissure, Deeply ... OMIM:617763
2Q32Q33 Microdeletion Syndrome
Dental crowding, Micrognathia, Oligodontia, High palate, Clinodactyly of the 5th finger, Sparse h... ORPHA:251019
Al Kaissi Syndrome
Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Macrodontia, Sacral di... OMIM:617694
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear,... OMIM:614846
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, A... ORPHA:2635
Trisomy 10P
Decreased muscle mass, Micrognathia, Abnormality of the ear, Orofacial cleft, High palate, Abnorm... ORPHA:171929
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Telecanthus, Depressed nasal bridge, Hypertelorism, Abnormal nasal morphology, Postaxial hand pol... ORPHA:83473
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
19P13.12 Microdeletion Syndrome
Synophrys, Short palm, Atrial septal defect, Conductive hearing impairment, Clinodactyly of the 5... ORPHA:254346
Koolen-De Vries Syndrome
Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Atrial septal defect, V... OMIM:610443
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Short palm, Clinodactyly of the 5th finger, Abnormal nasal bridge mor... ORPHA:363659
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Highly arched eyebrow, Hypertelorism, Abnormal toe morphology, C... OMIM:216100
Hamamy Syndrome
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Spar... OMIM:611174
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,... OMIM:620292
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Prominent nasal bridge, Abnormal pinna morphology, Supernumerary nipple, Secundum at... OMIM:618109
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Single transverse palmar crease, Synophrys, Deep philtrum, Deeply set eye, Short philtrum, Joint ... OMIM:620098
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Micrognathia, Depressed nasal... OMIM:608022
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Hearing impairm... ORPHA:238750
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, At... OMIM:115150
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:615546
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia OMIM:614838
Cardiofaciocutaneous Syndrome
Brittle hair, High palate, Atrial septal defect, Thickened helices, Sparse hair, Dystrophic finge... ORPHA:1340
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... OMIM:305620
Schaaf-Yang Syndrome
Mandibular prognathia, Thick eyebrow, Abnormality of the philtrum, Rocker bottom foot, Tapered fi... OMIM:615547
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Telecanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Ad... ORPHA:989
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Thin upper lip vermilion, Epicanthus, Hypertelorism, Prominent nose, Oligodontia, Hypodontia, Thi... OMIM:618092
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Waardenburg Syndrome Type 3
Narrow nasal bridge, Atrial septal defect, Telecanthus, Tented upper lip vermilion, Camptodactyly... ORPHA:896
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Synophrys, Velo... OMIM:182290
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... ORPHA:1225
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Epicanthus, Anteverted nares, Highly arched eyebrow, Stage 5 ch... OMIM:608629
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Chitayat Syndrome
Hallux valgus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Short columella, Proptosi... OMIM:617180
Fanconi Anemia, Complementation Group S
Epicanthus, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped... OMIM:617883
Holoprosencephaly 9
Hypoplasia of the maxilla, Partial agenesis of the corpus callosum, Single naris, Short philtrum,... OMIM:610829
Thanatophoric Dysplasia
Atrial septal defect, Depressed nasal bridge, Abnormality of the kidney, Micromelia, Hearing impa... ORPHA:2655
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... OMIM:608728
Laron Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Micro... ORPHA:633
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Smooth philtrum, Anteverted nares, Hypertelorism, Micrognathia, Synophrys, Wide nasal bridge, Wid... OMIM:602562
Anophthalmia Plus Syndrome
Choanal atresia, Hypertelorism, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, B... ORPHA:1104
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypop... ORPHA:2746
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... ORPHA:141152
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Synophrys, Hypertrophy of the urinary bladder, Large fleshy ears, Hig... ORPHA:280633
Alopecia-Intellectual Disability Syndrome
Abnormal nasal morphology, Split hand, Scoliosis, Aplasia/Hypoplasia of the eyebrow, Brachydactyly ORPHA:2850
Thomas Syndrome
Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, Cleft palate, Hypoplasti... ORPHA:3316
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... OMIM:302350
Hartsfield Syndrome
Telecanthus, Depressed nasal bridge, Hypertelorism, Non-midline cleft lip, Split hand, Cleft pala... ORPHA:2117
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Telecanthus, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders,... ORPHA:1974
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger,... OMIM:210720
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Hypertelorism, Micrognathia, S... ORPHA:93267
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ... OMIM:241310
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Inverted Duplicated Chromosome 15 Syndrome
Epicanthus, Broad nasal tip, Synophrys, 2-3 toe syndactyly, Deeply set eye, High palate, Talipes ... ORPHA:3306
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Hypertelorism, Wide nasal bridge, Upslanted palpebral fissure, Proptosis, Short... OMIM:618437
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, H... OMIM:227330
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... OMIM:274000
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, Mi... ORPHA:1915
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Hypertelorism, Protruding tongue, Gi... ORPHA:561
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, High, narrow pala... OMIM:180849
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Anteverted nares, Tapered finger, Hypertelorism, Small hand, Depressed nas... OMIM:618672
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Epicanthus, Telecanthus, Hypertelorism, Wide nasal bridge, Genu valgum, Hy... ORPHA:1778
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Ectropion of lower eyelids, Enuresis nocturna, Oligodontia, Eyelid coloboma,... OMIM:615873
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Mandibular prognathia, Osteopenia, Dental crowding, Metaphyseal widening, High palate, Clinodacty... OMIM:620083
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Abno... ORPHA:75389
Insulin-Like Growth Factor I, Resistance To
Micrognathia, Synophrys, High palate, Atrial septal defect, Patent foramen ovale, Long philtrum, ... OMIM:270450
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, Pat... ORPHA:2712
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... OMIM:300534
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Craniosynostosis, Abnormal tongue morphology, Abnormal heart morphology, Downtu... ORPHA:531151
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Epicanthus, Atrial septal defect, Bicuspid aortic valve, Patent ductus ... OMIM:619149
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpa... ORPHA:476126
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cleft hard palate, ... ORPHA:250999
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Protruding ear, Vesicoureteral ... ORPHA:96169
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Decreased palmar creases, Generalized joint laxity, Functional abnormality... ORPHA:2953
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Finger syndactyly, Multicystic ... ORPHA:2092
Say Syndrome
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Proximal renal tubular acidosis,... OMIM:181180
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Large fleshy ears, High pala... OMIM:614080
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of proximal phalanges... OMIM:300863
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Mandibular prognathia, Highly arched eyebrow, Hypertelorism, Synophrys, Thick lower lip vermilion... ORPHA:2057
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Depressed nasal bridge... OMIM:151210
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Anteverted nares, Hypertelorism, High palate, Long philtrum, Unilateral narrow palpebral fissure,... ORPHA:3038
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair,... OMIM:129400
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... ORPHA:50945
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Dysplastic corpus callosum, Prominent eyelashes, Gingi... OMIM:619179
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the philtrum, Ventricular septal de... ORPHA:1770
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Postaxial hand polydactyly, Upslante... ORPHA:66625
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Deeply ... OMIM:601559
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wr... ORPHA:481152
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... OMIM:611134
Chromosome 5P13 Duplication Syndrome
Epicanthus, Single transverse palmar crease, Blepharophimosis, Hypertelorism, Long fingers, Bulbo... OMIM:613174
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Con... ORPHA:373
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Ankyloblepharon,... OMIM:612651
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Anteverted nares, Preaxial hand polydactyly, Duplication o... OMIM:263630
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... OMIM:270400
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Tapered finger, Short... OMIM:615803
Jacobsen Syndrome
Eyelid coloboma, Agenesis of corpus callosum, Long hallux, Broad columella, Abnormality of the an... ORPHA:2308
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Prominent nose, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia... ORPHA:251061
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Hypertelorism, Short neck, Wide nas... OMIM:607131
Acrofrontofacionasal Dysostosis 2
Syndactyly, Wide nose, Sacral dimple, Broad hallux, Hypertelorism, Wide anterior fontanel, Hand p... OMIM:239710
White Forelock With Malformations
Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes, Prominent veins on trunk, White... OMIM:277740
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Hypertelorism, Wide nasal bridge, Cleft palate, High pa... OMIM:618388
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus OMIM:609166
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Hemivertebrae, Downtu... OMIM:156200
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Depressed nasal ... ORPHA:1387
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Hypertelorism, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Long phi... OMIM:617333
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Epicanthus, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hy... OMIM:614800
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure,... OMIM:616420
Monosomy 9P
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Synophrys, Anotia, Hi... ORPHA:261112
Mucopolysaccharidosis-Plus Syndrome
Metaphyseal widening, Synophrys, Low anterior hairline, Flexion contracture, Coarse hair, Atrial ... OMIM:617303
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... OMIM:620269
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Vesicoureteral reflux, Micropenis, Agenesis of corpus callosum, Hypospa... OMIM:301056
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Hypertelorism, Sparse eyebrow, Wide ... OMIM:619989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated... OMIM:253800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Downturned... ORPHA:369837
Tetrasomy 5P
Epicanthus, Anteverted nares, Overlapping toe, Short hallux, Hypertelorism, Micrognathia, Long fi... ORPHA:3309
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Broad nasal tip, Protruding tongue, Submucous cleft hard palate, Wide nasal brid... OMIM:618106
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Sub... OMIM:610015
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Micromelia, Abnormality of the hand, Abnorma... ORPHA:1842
Man1B1-Cdg
Eclabion, Thin upper lip vermilion, Wide nose, Epicanthus, Long eyebrows, Prominent nose, Sparse ... ORPHA:397941
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape... OMIM:271665
Holoprosencephaly-Craniosynostosis Syndrome
Epicanthus, Coxa valga, Hypotelorism, Upslanted palpebral fissure, Hypoplastic vertebral bodies, ... ORPHA:2163
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... ORPHA:1423
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... ORPHA:50
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Atrial septal defect, Agenesis of corpus callosum, Exaggerated cupid's bow, An... ORPHA:261236
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Everted upper lip vermilion, Epicanthus, Exaggerated cupid's bow, Ventricul... OMIM:615879
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Isotretinoin Syndrome
Depressed nasal bridge, Cleft palate, Micrognathia ORPHA:2305
White-Kernohan Syndrome
Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Simple ear, ... OMIM:619426
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Protr... ORPHA:85279
Mulibrey Nanism
Wide nose, Dental crowding, Depressed nasal bridge, Nephroblastoma, Cardiomegaly, Absent frontal ... OMIM:253250
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Spars... ORPHA:175
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downturned corners of mouth, High... OMIM:617140
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... ORPHA:261330
3M Syndrome
Congenital hip dislocation, Micromelia, Abnormal cerebral vascular morphology, Hypoplastic ischia... ORPHA:2616
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Glue ear, Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Broad... OMIM:619758
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula OMIM:300958
Toluene Embryopathy
Smooth philtrum, Epicanthus, Micrognathia, Tapered finger, Thin vermilion border, Hypoplasia of t... ORPHA:1920
Pycnodysostosis
Obtuse angle of mandible, Prominent nose, Micrognathia, Hypoplasia of the maxilla, High palate, H... ORPHA:763
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... OMIM:119600
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Atrial septal defect, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, N... OMIM:618005
Luo-Schoch-Yamamoto Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Hypertelorism, Almond... OMIM:619460
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hallux valgus, Osteopenia, Prominent nose, Secundum atrial septal defect, Micrognathia, Long hall... OMIM:620194
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-losing enteropathy, L... OMIM:608104
Vertebral Hypersegmentation And Orofacial Anomalies
Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle... OMIM:619122
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Micrognathia, Calcaneo... OMIM:615065
Waardenburg Syndrome Type 1
Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Tented upper lip vermilion, U... ORPHA:894
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Epicanthus, Irregular dentition, Depressed nasal bridge, Hypertelorism, Narrow mouth,... OMIM:616006
Hydrolethalus
Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormality of the sense... ORPHA:2189
Sifrim-Hitz-Weiss Syndrome
Anteriorly placed anus, Atrial septal defect, Vesicoureteral reflux, Micropenis, Bifid uvula, Tap... OMIM:617159
Short Syndrome
Telecanthus, Abnormal dental enamel morphology, Hypertelorism, Abnormality of the dentition, Abno... ORPHA:3163
Coffin-Siris Syndrome 4
Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,... OMIM:614609
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Anteverted nares, Highly arched eyebrow, Hypert... OMIM:619135
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Aplasia/Hypoplasia of the rib... ORPHA:508498
Desmosterolosis
Micrognathia, Generalized osteosclerosis, Partial agenesis of the corpus callosum, Hypoplastic na... OMIM:602398
Microcephaly, Short Stature, And Limb Abnormalities
Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,... OMIM:617604
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Ptosis, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Lacrima... ORPHA:73246
Noonan Syndrome 11
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Palmoplantar cutis laxa, Thick ve... OMIM:618499
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Shor... ORPHA:798
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Tented upper lip vermilion, High, narrow palate, ... ORPHA:488632
Toriello-Carey Syndrome
Micrognathia, Clinodactyly, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anot... ORPHA:3338
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Mosaic Variegated Aneuploidy Syndrome 2
Single transverse palmar crease, Micrognathia, Clinodactyly, Atrial septal defect, Sparse hair, C... OMIM:614114
Alg9-Cdg
Villous atrophy, Micrognathia, Right ventricular dilatation, Large fleshy ears, Narrow greater sc... ORPHA:79328
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Diaphragmatic even... OMIM:608978
3Mc Syndrome 1
Conjunctival telangiectasia, Dental crowding, Synophrys, Coronal craniosynostosis, Atrial septal ... OMIM:257920
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Complete atrioventricula... OMIM:619142
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Hypospadias, Micrognathia, Gingival overgrowth, Cleft palate, Ulnar devi... ORPHA:2013
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Protrud... OMIM:300963
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Joint laxity, Hypospadias, Bicuspid aortic valve, Highly arched eyebrow... OMIM:617751
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Hypertelori... OMIM:601353
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Wide nose, Anteverted nares, Hypertelorism, Hypoplasia of the zygomatic bone, Long philtrum, Clin... ORPHA:3074
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Blepharophimosis, Hypertelorism, Open bite, De... ORPHA:3079
Prader-Willi Syndrome Due To Translocation
Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th f... ORPHA:177907
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Atrial se... OMIM:244450
Halperin-Birk Syndrome
Micrognathia, Perimembranous ventricular septal defect, Thick vermilion border, High palate, Agen... OMIM:618651
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Epicanthus, Atrial septal defect, Deep phil... ORPHA:2475
Zimmermann-Laband Syndrome
Micrognathia, Short neck, Overtubulated long bones, High palate, Bifid uvula, Hypertelorism, Supe... ORPHA:3473
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Palpebral edema, Single transverse palmar crease, Micrognathia, Metatarsus adductus, ... OMIM:214110
Distal Deletion 10P
Hypertelorism, Micrognathia, Short neck, Non-midline cleft lip, Abnormality of the elbow, Wide na... ORPHA:1580
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Low anterior hairline, High palate, Short philtrum, 2-5 toe synda... OMIM:617746
Achondrogenesis Type 1A
Short palm, Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Micrognath... ORPHA:93299
Chromosome 14Q11-Q22 Deletion Syndrome
Lateral ventricular asymmetry, Micrognathia, High palate, Agenesis of corpus callosum, Patent for... OMIM:613457
Frontofacionasal Dysplasia
Telecanthus, Underdeveloped nasal alae, Hypertelorism, Cleft upper lip, Ankyloblepharon, Orofacia... OMIM:229400
Orofaciodigital Syndrome Type 6
Micrognathia, Preaxial polydactyly, Finger clinodactyly, Lobulated tongue, High palate, Conductiv... ORPHA:2754
Trisomy 18
Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Atrial septal defect, Bilatera... ORPHA:3380
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... ORPHA:397715
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... ORPHA:1790
Cardiospondylocarpofacial Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of eruption of pe... ORPHA:3238
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre... OMIM:114290
Trisomy X
Epicanthus, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Upslanted palpebral fissure, ... ORPHA:3375
Cerebrofaciothoracic Dysplasia
Epicanthus, Wide nose, Hypertelorism, Cleft upper lip, Short neck, Synophrys, Hemivertebrae, Clef... ORPHA:1394
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Atrial septal defect, Joint laxity, Arachnodactyly, Bicuspid aortic valve,... OMIM:619721
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Hypoplasia ... ORPHA:560
Zellweger Syndrome
Epicanthus, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Depressed nasal... ORPHA:912
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ... OMIM:601812
1Q21.1 Microdeletion Syndrome
High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger, Agenesis of corpus callosum, ... ORPHA:250989
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Bifid uvula, Ant... ORPHA:404440
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
19P13.13 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, ... ORPHA:357001
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Clinodactyly, Lobulated tongue, Agenesis of corpus callosu... OMIM:249000
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Telecanthus, Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... ORPHA:2062
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasia, Missing ribs, Hydrocepha... ORPHA:1834
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... OMIM:619854
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventriculomegaly, Bicuspid aortic valve, Ventricular septal defect, Depr... ORPHA:284169
Marden-Walker Syndrome
Decreased muscle mass, Micrognathia, High, narrow palate, Congenital contracture, High palate, Mi... OMIM:248700
Down Syndrome
Depressed nasal ridge, Downturned corners of mouth, Conductive hearing impairment, Clinodactyly o... ORPHA:870
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Congenital diaphragmat... OMIM:166300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... ORPHA:166002
Pfeiffer Syndrome Type 3
Aqueductal stenosis, High palate, Vesicoureteral reflux, Finger syndactyly, Broad hallux phalanx,... ORPHA:93260
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Sparse ... ORPHA:306542
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Highly arched eyebrow, Diastema, Patent foramen ... OMIM:615009
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Metatarsus adductus, Hypopla... ORPHA:293939
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Epicanthus, Hypertelorism, Micrognathia, Short neck, Short toe, Wide nasal bridge, High palate, T... ORPHA:98791
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Protruding e... ORPHA:3041
Cooks Syndrome
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly ORPHA:1487
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Hypertelorism, Micrognathia, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, ... OMIM:239800
Branchio-Oculo-Facial Syndrome
Deep philtrum, Orofacial cleft, Premature graying of hair, High palate, Conductive hearing impair... ORPHA:1297
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners... OMIM:136140
Recombinant 8 Syndrome
Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ... ORPHA:96167
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Foot dorsiflexor weakness, Joi... ORPHA:477817
Prune Belly Syndrome
Congenital hip dislocation, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspl... ORPHA:2970
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Anteverted nares, Hypertelorism, Short neck, Kyphosis, Cone-... ORPHA:420794
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Synophrys, Oligodontia, Short philtrum, Vesicoureteral reflux, Clinoda... OMIM:609460
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Brachydactyly, Single transverse palmar crease, Adducted thumb OMIM:620062
Orofaciodigital Syndrome Ix
Telecanthus, Toe syndactyly, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid na... OMIM:258865
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Abnormality of the kidney, Micromelia, Hearing impairment,... ORPHA:93274
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasi... OMIM:619841
Acrocardiofacial Syndrome
Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hypospadias, Cleft upper lip, Split... ORPHA:2008
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Micrognathia, Renal cyst, High palate, Atrial septal defect, Age... OMIM:614866
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly OMIM:132450
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Pericardial effusion, Hip dislocation, Wide mouth, Abnormal cardiac septu... OMIM:608776
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormal rib morpho... ORPHA:93298
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ... ORPHA:2557
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Axial malrotation of the kidney, Genu v... ORPHA:3320
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microcephaly, Narrow mouth, Atrial septal defect, Anal atresia ORPHA:3469
Momo Syndrome
Delayed eruption of teeth, Epicanthus, Hypertelorism, Short neck, Thick lower lip vermilion, Dent... OMIM:157980
Ring Chromosome 10 Syndrome
Sandal gap, Hypertelorism, Tapered finger, Micrognathia, Short neck, Wide nasal bridge, Thin verm... ORPHA:1438
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge, Hypertelorism OMIM:612563
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Upslanted palpebral fissure, Deeply set eye, Hip dysplasia, ... ORPHA:496790
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Short neck, Choanal ste... OMIM:619859
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology ORPHA:1389
Kinsship Syndrome
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Synophrys, Down... OMIM:619297
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Micrognathia, High, narrow palate, Synophrys, Ileus, Hydrocephalus, Narrow palp... OMIM:620156
Specc1L-Related Hypertelorism Syndrome
Ectopic kidney, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced e... ORPHA:1519
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Abnor... ORPHA:3301
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, High pa... OMIM:211380
Kleefstra Syndrome 1
Mandibular prognathia, Single transverse palmar crease, Synophrys, Conotruncal defect, Micropenis... OMIM:610253
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar ky... ORPHA:508533
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... ORPHA:2378
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... ORPHA:93316
Myopathy, Centronuclear, 5
Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula OMIM:615959
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Mild microcephaly, Increased overbite, Long p... OMIM:618761
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Agenesis of corpus callosum,... ORPHA:89844
Alazami Syndrome
Wide nose, Sparse eyebrow, Abnormality of the orbital region, Wide mouth, Slender long bone, Narr... ORPHA:319671
Chops Syndrome
High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Thickened helices, Vesi... OMIM:616368
Fanconi Anemia
Abnormal eyelid morphology, Micrognathia, Abnormal femur morphology, Reduced bone mineral density... ORPHA:84
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Wide mouth, Lateral ventricle dilatation, Short palm, Micropenis OMIM:300982
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Oligo... ORPHA:2044
Chromosome 18P Deletion Syndrome
Epicanthus, Toe syndactyly, Anteverted nares, Hypertelorism, Micrognathia, Short neck, Depressed ... OMIM:146390
Distal Deletion 12Q
Single transverse palmar crease, Ectopic kidney, Micrognathia, High, narrow palate, Aplasia/Hypop... ORPHA:96149
Diamond-Blackfan Anemia 21
Hallux valgus, Unilateral ptosis, Sandal gap, Tapered finger, Hypertelorism, Preaxial hand polyda... OMIM:620072
Donnai-Barrow Syndrome
Diaphragmatic eventration, Proteinuria, Intestinal malrotation, Ventricular septal defect, Depres... OMIM:222448
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo... OMIM:268400
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Vesicoureteral ... ORPHA:2745
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Humeroradial synostosi... OMIM:134780
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long to... OMIM:614527
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Brachydactyly, Telecanthus, Depressed nasal bridge, Anteverted nar... OMIM:615789
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Low anterior hairline, Widely... OMIM:608227
Treacher Collins Syndrome 3
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia OMIM:248390
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Omodysplasia 2
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Clinodactyly of the 5th finger, ... OMIM:164745
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Microm... OMIM:616546
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... ORPHA:2872
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognath... OMIM:242860
Dermotrichic Syndrome
Blepharophimosis, Short nose, Depressed nasal bridge, Abnormal vertebral morphology ORPHA:99688
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Brachydactyly, Epicanthus, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, T... OMIM:608624
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Mixed hearing impairment, Scapular winging, Lacrimal duct stenosis, Down-slopi... OMIM:615560
Diaphanospondylodysostosis
Missing ribs, Myelomeningocele, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absent or... ORPHA:66637
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Atrial se... ORPHA:261323
Fumarase Deficiency
Relative macrocephaly, Necrotizing enterocolitis, Microcephaly, Cerebral atrophy, Hypoplasia of t... OMIM:606812
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... OMIM:602418
Buratti-Harel Syndrome
Atrial septal defect, Epicanthus, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Po... OMIM:619314
Isolated Osteopoikilosis
Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, Syndactyly,... ORPHA:166119
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Ventriculomegaly, Highly arched eyebr... ORPHA:96147
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Micrognathia, Short neck, Calcaneovalgus deformity, High palate, Ulnar deviation of the hand or o... ORPHA:562528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Hig... OMIM:608836
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Sing... OMIM:244300
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Low anterior hairline, Oligodontia, Sparse ... OMIM:272950
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed nasal bri... OMIM:215100
Epilepsy, Progressive Myoclonic, 9
Short thumb, Generalized amyotrophy, Microglossia, Agenesis of corpus callosum, Ventriculomegaly OMIM:616540
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure... OMIM:113650
Infantile Spasms-Broad Thumbs Syndrome
Convex nasal ridge, Micrognathia, Hypertelorism, Downslanted palpebral fissures, Broad thumb ORPHA:3173
Nizon-Isidor Syndrome
Unilateral ptosis, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent ... OMIM:618872
Encephalopathy Due To Sulfite Oxidase Deficiency
Deeply set eye, Short nose, Thick vermilion border, Long philtrum ORPHA:833
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn... OMIM:154400
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... ORPHA:1264
Orofaciodigital Syndrome X
Retrognathia, Depressed nasal bridge, Cleft palate OMIM:165590
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Low ha... OMIM:613680
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid... ORPHA:2588
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Pelvic kidney, Thi... OMIM:247200
3Q29 Microdeletion Syndrome
Dental crowding, Hypospadias, Prominent nasal bridge, Tapered finger, Abnormality of the dentitio... ORPHA:65286
Congenital Disorder Of Glycosylation, Type 2V
Ptosis, Epicanthus, Thin upper lip vermilion, Underdeveloped nasal alae, Hypertelorism, Bulbous n... OMIM:619493
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Platyspondyly, Brachytelomesoph... ORPHA:2619
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... ORPHA:536471
8P Inverted Duplication/Deletion Syndrome
Micrognathia, High, narrow palate, Synophrys, Clinodactyly of the 5th finger, Micropenis, Agenesi... ORPHA:96092
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micromelia, Micrognathia, Congenital diaphragma... ORPHA:199
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,... OMIM:300707
Noonan Syndrome 4
Ureteral duplication, Thickened helices, Atrial septal defect, Depressed nasal bridge, Sparse eye... OMIM:610733
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... OMIM:113300
Zechi-Ceide Syndrome
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... OMIM:612916
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Cranio... ORPHA:261197
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Hyperteloris... ORPHA:2988
Cerebellofaciodental Syndrome
Single transverse palmar crease, Tapered finger, Sparse eyebrow, Short neck, Dental malocclusion,... OMIM:616202
Roifman-Chitayat Syndrome
Short metacarpal, Depressed nasal bridge, Lacrimal duct stenosis, Hypertelorism, Short neck, Thin... OMIM:613328
Ring Chromosome 7 Syndrome
Unilateral ptosis, Mandibular prognathia, Single transverse palmar crease, Low anterior hairline,... ORPHA:1449
Donnai-Barrow Syndrome
Depressed nasal bridge, Hypertelorism, Wide anterior fontanel, Proptosis, Short nose, Downslanted... ORPHA:2143
Menke-Hennekam Syndrome 1
Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, Deeply set eye,... OMIM:618332
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Telecanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, ... ORPHA:314655
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, High palate, Anteverted... OMIM:254940
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r... ORPHA:1354
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Alopecia, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epi... ORPHA:177
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Brittle hair, Dental crowding, Alopecia, Narrow nasal ridge, Microgn... OMIM:608612
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Broad nas... OMIM:614813
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Sparse hair, Diastema, Gingival o... OMIM:212066
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... OMIM:215045
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Tapered finger, Broad nasal tip, Su... OMIM:619680
15q26 overgrowth syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Abnormal finger morphology, High palate, Ves... DECIPHER:81
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Unilateral ptosis, Dental crowding, Congenital diaphragmatic hernia, Synophrys, Low anterior hair... OMIM:301044
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... OMIM:277590
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Depressed nasal bridge, Broad ha... OMIM:618019
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Dep... ORPHA:1272
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... ORPHA:570
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ... OMIM:612394
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Hypertelorism, Preaxial hand polydactyly, Foot polydactyly, Short nose ORPHA:210548
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ... OMIM:224400
Bent Bone Dysplasia Syndrome 1
Bent long bone, Natal tooth, Hypertelorism, Micrognathia, Hypoplastic pubic bone, Gingival overgr... OMIM:614592
Pseudoaminopterin Syndrome
Hypoplasia of the antihelix, Single transverse palmar crease, Limited elbow movement, Micrognathi... ORPHA:221120
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Hypertelorism, Upper eyelid coloboma... OMIM:613456
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Synophrys, ... OMIM:619512
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Downturned ... OMIM:618590
Ayme-Gripp Syndrome
Mandibular prognathia, Depressed nasal bridge, Tapered finger, Hypertelorism, Wide nasal bridge, ... OMIM:601088
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Frank-Ter Haar Syndrome
Osteopenia, Micrognathia, Secundum atrial septal defect, Protruding ear, High palate, Short palm,... OMIM:249420
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis of corpus callosum, Encephalocele, ... OMIM:264480
Laubry-Pezzi Syndrome
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... ORPHA:99094
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Abnormal pinna morphology, ... OMIM:614437
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Coach Syndrome 1
Encephalocele, Optic disc pallor, Occipital encephalocele, Anteverted nares, Unilateral renal age... OMIM:216360
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Intestinal malrotation,... OMIM:270100
Cat Eye Syndrome
Micrognathia, Atrial septal defect, Vesicoureteral reflux, Patent ductus arteriosus, Total anomal... OMIM:115470
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Abnormality of the kidney, Bulbous nose, Reduced bone mineral density, Long phil... ORPHA:466926
Distal Deletion 6P
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Short palm, Atrial se... ORPHA:96125
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... ORPHA:87
15Q11.2 Microdeletion Syndrome
Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coarct... ORPHA:261183
Leopard Syndrome 2
Mandibular prognathia, Epicanthus, Depressed nasal bridge, Hypertelorism, Short neck, Thick lower... OMIM:611554
Warburg Micro Syndrome 3
Decreased muscle mass, Ventriculomegaly, Blepharophimosis, Micrognathia, Flexion contracture, Opt... OMIM:614222
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Anteverted nares, Posteriorly rotated ears, Underdeveloped na... OMIM:611961
Kbg Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Synophrys, Widely-spaced... OMIM:148050
3Mc Syndrome
Ptosis, Telecanthus, Highly arched eyebrow, Blepharophimosis, Abnormal nasal morphology, Hypertel... ORPHA:293843
Degcags Syndrome
Osteopenia, Prominent nose, Micrognathia, Synophrys, Bilateral renal hypoplasia, Low anterior hai... OMIM:619488
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Shallow o... OMIM:182212
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Epicanthus, Toe syndactyly, Short hallux, Hypertelorism, Abnormal nasal morpho... ORPHA:3224
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Broad hallux, Depressed nasal bridge, Hypertelorism, Almond-shaped palpebral fissure, Short neck,... OMIM:300860
Monosomy 18Q
Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal de... ORPHA:1600
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower... OMIM:249670
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... OMIM:149730
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Micrognathia, Synophrys, Deeply set eye, High palate, Short philtrum, Clinodactyly of the 5th fin... OMIM:618443
Coffin-Siris Syndrome 1
Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Ectopi... OMIM:135900
Congenital Hydrocephalus
Posteriorly rotated ears, Bulbous nose, Sensorineural hearing impairment, Optic atrophy, Hydrocep... ORPHA:2185
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Prominent nose, Mi... OMIM:305450
Craniofaciofrontodigital Syndrome
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Low anter... ORPHA:363705
Jacobsen Syndrome
Micrognathia, Flexion contracture, Eyelid coloboma, Holoprosencephaly, Atrial septal defect, Clin... OMIM:147791
Cardiofacioneurodevelopmental Syndrome
Hypertelorism, Micrognathia, Cleft lip, Kyphosis, Cleft palate, Hypotelorism, Upslanted palpebral... OMIM:619123
Congenital Disorder Of Glycosylation, Type Iil
Epicanthus, Ventricular septal defect, Postaxial polydactyly, Unilateral renal agenesis, Patent d... OMIM:614576
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Telecanthus, Crowded ... ORPHA:397973
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... OMIM:615994
Agnathia-Otocephaly Complex
Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, C... OMIM:202650
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... OMIM:151050
Holoprosencephaly 5
Anteverted nares, Depressed nasal bridge, Syntelencephaly, Alobar holoprosencephaly, Deep philtru... OMIM:609637
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High pa... ORPHA:480880
Rhizomelic Chondrodysplasia Punctata, Type 2
Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous cleft hard palate, Wide nasal b... OMIM:222765
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Synoph... OMIM:620369
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Patent foramen ovale, Abnormal renal morpho... OMIM:610883
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... OMIM:209885
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Dysplastic corpus callosum, Cupped ear,... OMIM:619955
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Epicanthus, Congenital hip dislocation, Depressed nasal bridge, Hypertelorism, Hemive... OMIM:104350
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal ridge, Cherry red spot of the macula, Generalized hirsutis... ORPHA:354
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... OMIM:616145
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M... ORPHA:289
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Bulbous nose, Opti... OMIM:618737
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Hypertelorism, Mirror image foot polydactyly, Preaxial foot polydactyly, ... OMIM:119800
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger ORPHA:2787
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Epicanthus, Abnormality of the philtrum, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Choana... ORPHA:2759
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate... OMIM:268305
German Syndrome
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Heari... ORPHA:2077
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... ORPHA:96334
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Anteverted nares, Protruding tongue, Patent ductus arteriosus, Sensori... OMIM:612938
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Protruding ear, High palate, Chronic otitis media, Ant... ORPHA:261250
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Peho Syndrome
Epicanthus, Tented upper lip vermilion, Tapered finger, Short nose, Retrognathia, Open mouth OMIM:260565
Cerebrooculonasal Syndrome
Downturned corners of mouth, High palate, Conductive hearing impairment, Dandy-Walker malformatio... OMIM:605627
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ... ORPHA:2756
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... ORPHA:2928
Okur-Chung Neurodevelopmental Syndrome
Ptosis, Epicanthus, Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Ante... OMIM:617062
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, 2-3 toe syndactyly, Renal hypoplasia... OMIM:618914
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Sparse eyebrow, Hypertelorism, Micrognathia, C... OMIM:604173
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Kyphosis, Narrow palate, Short upper lip, Deeply set eye, Macrodontia of p... ORPHA:364028
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Syndactyly, Atrial septal defect, Optic disc pallor, Sparse eyebrow, Pa... OMIM:619869
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Pyloric stenosis, Cleft palate... ORPHA:96184
Craniofacioskeletal Syndrome
Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, H... OMIM:300712
Ellis-Van Creveld Syndrome
Epispadias, Hypoplastic iliac wing, Atrial septal defect, Dandy-Walker malformation, Hypospadias,... OMIM:225500
Xp22.13P22.2 Duplication Syndrome
Mandibular prognathia, Tapered finger, Broad nasal tip, Hypertelorism, Short neck, Recurrent uppe... ORPHA:284180
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Si... ORPHA:990
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Micrognathia, Long nose,... ORPHA:52
Nicolaides-Baraitser Syndrome
Dry hair, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short met... OMIM:601358
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Joint laxity, Facial hypotonia, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Nephroc... OMIM:611087
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... ORPHA:2462
Hypertrichosis Cubiti
Rhizomelia, Abnormal nasolacrimal system morphology, Micromelia, Abnormal eyelid morphology, Abno... ORPHA:2220
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/Hypoplasia of the maxi... ORPHA:40366
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Limited elbow extension... OMIM:180870
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Deep philtrum, Hypotelorism, Deeply set eye, Vertebral segmentation d... OMIM:612530
Joubert Syndrome 1
Optic disc pallor, Epicanthus, Enlarged fossa interpeduncularis, Anteverted nares, Highly arched ... OMIM:213300
Tooth Agenesis, Selective, 4
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ... OMIM:150400
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, Metaphyseal wi... OMIM:250420
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Atrial septal defect, Epicanthus, Curly hair, Arachnodactyly, Underdeveloped nasal ... OMIM:300986
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, High palate, Wide... OMIM:143095
Seckel Syndrome 5
11 pairs of ribs, Hypospadias, Selective tooth agenesis, Prominent nasal bridge, Blepharophimosis... OMIM:613823
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou... ORPHA:280
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Postaxial hand polydactyly, Genu v... ORPHA:65759
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Epicanthus, Abnormal mitral valve morphology, Prominent nose, Wide nasal br... ORPHA:1292
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Long nose, Dental malocclusion, Protru... ORPHA:2115
Intellectual Developmental Disorder, Autosomal Dominant 57
Ptosis, Epicanthus, Telecanthus, Thin upper lip vermilion, Prominent nasal bridge, Broad nasal ti... OMIM:618050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Shallow... ORPHA:453499
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Ant... OMIM:619343
Toriello-Lacassie-Droste Syndrome
Epicanthus, Telecanthus, Anteverted nares, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiv... ORPHA:3339
White-Sutton Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mouth... OMIM:616364
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep... OMIM:617137
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Uplifted earlobe, Micrognathia, High palate, Triphalangeal thumb, Tap... OMIM:618580
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardiomyop... OMIM:300845
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
Craniofrontonasal Syndrome
Telecanthus, Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypertelorism, Bifid nasal tip... OMIM:304110
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Vesicoureteral r... ORPHA:444077
Jeune Syndrome
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphol... ORPHA:474
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Bicuspid a... ORPHA:457279
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Renal hypoplasia/aplasia, Abnorma... ORPHA:971
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Single transverse palmar crease, Synophrys, Short philtrum, Joint contracture of the ... ORPHA:363611
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Multiple prenatal fractures, Pa... OMIM:215140
Distal Monosomy 7Q36
Hypoplasia of penis, Micrognathia, Non-midline cleft lip, Bulbous nose, Optic atrophy, Cleft pala... ORPHA:1636
Omodysplasia 1
Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fibular diamete... OMIM:258315
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Epicanthus, Sacral dimple, Tapered finger, Wide nasal b... OMIM:613603
Kniest Dysplasia
Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairment, Abnorma... OMIM:156550
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Microcephaly, Cleft upper lip, Cleft palate, High palate OMIM:609654
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Micrognathia, Clinodactyly, Flexion contracture, Protruding ear, Oligodo... OMIM:309590
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Distal Duplication 17Q
Micrognathia, Protruding ear, High palate, Short philtrum, Vesicoureteral reflux, Renal duplicati... ORPHA:3379
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Peripheral Dysostosis
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly ORPHA:1795
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Absent lacrimal punctum, Hypoplasia of penis, Alopecia, Hypospadias, D... ORPHA:2315
Treacher-Collins Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis... ORPHA:861
Atelosteogenesis, Type Iii
Radial bowing, Sandal gap, Rhizomelia, Depressed nasal bridge, Micrognathia, Tombstone-shaped pro... OMIM:108721
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Highly arched eyebrow, Broad nasal tip, Hypertelorism, Micrognathia, Hypop... OMIM:620157
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... ORPHA:1071
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Choanal stenosi... ORPHA:95699
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d... ORPHA:163979
Frias Syndrome
Hypertelorism, Micrognathia, Proptosis, Downslanted palpebral fissures, Ptosis OMIM:609640
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Prominent nose, Microg... OMIM:210600
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Epicanthus, Telecanthus, Wide nose, Hearing impairment, Underdeveloped nasal a... ORPHA:1252
Image Syndrome
Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Micromelia, Low-set ears, Hydronephrosis ORPHA:85173
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Glossoptosis, Abnormally ossified ve... ORPHA:94068
Kabuki Syndrome 1
Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Prominent fingertip pads, ... OMIM:147920
Polyrrhinia
Abnormal nasal bone morphology, Hypertelorism, Abnormal external nose morphology, Orofacial cleft... ORPHA:141091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... OMIM:263520
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Single transverse palmar crease, Synophrys, High palate, Prominent fingert... OMIM:617804
Renal Tubular Dysgenesis
Tetralogy of Fallot, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropa... ORPHA:3033
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Broad nasal tip, Hypertel... ORPHA:363686
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... ORPHA:37553
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hypoplastic ilia, Abno... ORPHA:1860
Peho Syndrome
Epicanthus, Ventriculomegaly, Palpebral edema, Anteverted nares, Tapered finger, External ear mal... ORPHA:2836
Rapadilino Syndrome
Slender nose, Sparse scalp hair, Sparse eyelashes, Aplasia/Hypoplasia of the patella, Absent thum... OMIM:266280
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Bilateral single transverse palmar creases, Proximal placement of thumb, S... ORPHA:1120
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Broad nasal tip, Hypertelorism, Wide nasal bridge, Shortening of all ... OMIM:614207
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Microcephaly, Cleft lip, P... OMIM:619895
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin... ORPHA:3352
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Brachydactyly, Wide nasal bridge, Increased carrying angle, Ptosis OMIM:247410
Adams-Oliver Syndrome 2
Alopecia, Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Bulbous nose, Hy... OMIM:614219
Restrictive Dermopathy 1
Ureteral duplication, Micrognathia, Flexion contracture, Overtubulated long bones, Atrial septal ... OMIM:275210
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Vesico... ORPHA:567
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Ventriculomegaly, Joint hypermobility, Short toe, Deep philtrum, Patent du... ORPHA:404443
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cleft soft palate... ORPHA:2282
Achondroplasia
Bowing of the legs, Femoral bowing, Choanal stenosis, Narrow greater sciatic notch, Trident hand,... OMIM:100800
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Epicanthus, Macrodontia, Anteverted nares, Single transverse palmar cre... OMIM:618606
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Abnormal eyelid morphology, Cardiomegaly, Secu... OMIM:300855
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Absent septu... OMIM:601357
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th fin... OMIM:608670
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Hypertelorism, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinodactyly, Dentino... ORPHA:166277
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Microcephaly, Cleft palate, Short philtr... ORPHA:261190
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Joint laxity, Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Highly arched ... ORPHA:500533
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Micrognathia, Low anterior hairline, Coxa vara, High palate,... ORPHA:800
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate, Shallow or... OMIM:268300
Ohdo Syndrome, X-Linked
Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Depressed nasal brid... OMIM:300895
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Atrial ... OMIM:139210
Joubert Syndrome 35
Telecanthus, Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Highly arche... OMIM:618161
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Abnormal pinna morph... OMIM:207410
Alg3-Cdg
Osteopenia, Abnormal pinna morphology, Abnormality of the nose, Metaphyseal chondrodysplasia, Abn... ORPHA:79321
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Thin vermilion border, High palate, Malar flattening, Short nose, Smooth philtrum OMIM:601853
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Ventricular septal defect, Sparse eyelashes, Anteverted nares, Abnormal... OMIM:234050
Contractural Arachnodactyly, Congenital
Osteopenia, Bicuspid aortic valve, Micrognathia, Knee flexion contracture, High palate, Atrial se... OMIM:121050
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys... ORPHA:485
19P13.3 Microduplication Syndrome
Prominent nose, Micrognathia, Short philtrum, Osteoporosis, Microtia, Thick vermilion border, Low... ORPHA:447980
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Cra... OMIM:614732
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short dista... ORPHA:2776
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge, Sparse lateral eyebrow OMIM:614564
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgn... ORPHA:96121
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal finger morphology, Phocomelia, Atrial septal defect, Mi... ORPHA:2538
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide nasal bridge, Epiphyseal stippling, Low-set ears, Polycystic kidney dysplasia, Vascular dila... OMIM:614859
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Recurrent frac... ORPHA:2772
Mosaic Variegated Aneuploidy Syndrome
Micrognathia, Depressed nasal ridge, Holoprosencephaly, Atrial septal defect, Clinodactyly of the... ORPHA:1052
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Tooth agenesis, Microcephaly, Bacterial endocarditis, Micrognathia ORPHA:1964
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Skeletal muscl... OMIM:615419
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Ventricular septal defect, Minimal chan... OMIM:616730
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture, Cutaneous finge... OMIM:224690
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Wiedemann-Steiner Syndrome
Synophrys, Clinodactyly, High palate, Clinodactyly of the 5th finger, Dilatation of renal calices... ORPHA:319182
Legg-Calvé-Perthes Disease
Cartilage destruction, Skeletal muscle atrophy, Abnormality of the dentition ORPHA:2380
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly o... OMIM:181270
Achondrogenesis
Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of bone... ORPHA:932
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Short phal... OMIM:600383
49,Xxxxy Syndrome
Mandibular prognathia, Short neck, Depressed nasal ridge, Clinodactyly of the 5th finger, Depress... ORPHA:96264
1P36 Deletion Syndrome
Hypoplasia of penis, Depressed nasal ridge, Renal cyst, Clinodactyly of the 5th finger, Conductiv... ORPHA:1606
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Synophrys, Hypop... OMIM:612289
Lowry-Wood Syndrome
Prominent nose, Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion cont... OMIM:226960
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... ORPHA:536467
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductu... ORPHA:2095
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Micrognathia,... OMIM:617022
Dpm1-Cdg
Ventriculomegaly, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Micrognathia, H... ORPHA:79322
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic... ORPHA:2549
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... OMIM:616652
Tetrasomy 9P
Myositis, Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Shor... ORPHA:3310
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... ORPHA:3429
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Micr... ORPHA:2990
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilatera... ORPHA:508488
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Single transverse palmar crease, Micrognathia, High palate, Arachnod... OMIM:618348
Witteveen-Kolk Syndrome
Glue ear, Proximal placement of thumb, Uplifted earlobe, Congenital diaphragmatic hernia, High, n... OMIM:613406
Benign Samaritan Congenital Myopathy
Narrow mouth, Epicanthus, Wide nasal bridge, Hypertelorism ORPHA:324581
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Synophrys, Depressed nasal ridge, Orofacial cleft, High pa... OMIM:607872
Acromesomelic Dysplasia 4
Mandibular prognathia, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutis... OMIM:619636
Noonan Syndrome 5
Mandibular prognathia, Curly hair, Epicanthus, Depressed nasal bridge, Thickened helices, Sparse ... OMIM:611553
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Absent nasal bridge, Mesomel... ORPHA:171866
Trichorhinophalangeal Syndrome Type 1
Micrognathia, Short metatarsal, Protruding ear, High palate, Sparse hair, Clinodactyly of the 5th... ORPHA:77258
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Aqueductal stenosis, Humeroradi... OMIM:251230
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... ORPHA:887
Intellectual Developmental Disorder, Autosomal Dominant 64
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Single transverse... OMIM:619188
Lambotte Syndrome
Telecanthus, Hypertelorism, Narrow mouth, Preaxial foot polydactyly, Retrognathia, Convex nasal r... OMIM:245552
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Thin upper lip vermilion, Arachnodactyly, Hypertelorism, Upslanted palpebral fissure, Deeply set ... OMIM:612242
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Laurence-Moon Syndrome
Finger syndactyly, Epicanthus, Bilateral single transverse palmar creases, Hand polydactyly, Brac... ORPHA:2377
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, Neph... OMIM:617402
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... OMIM:611560
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Synophrys, Widely spaced teeth, Clinodactyly of the 5th finger, Patent foramen ovale, Hypospadias... ORPHA:477993
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Spina bifida, Micrognat... ORPHA:1393
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Wide nose, Epicanthus, Exaggerated cupid's bow, Camptodactyly of finger, Under... ORPHA:284160
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Highly arched eyebrow, Open mouth, Downturned corners of mouth, Widely sp... OMIM:617865
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies,... ORPHA:233
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Single transverse palmar crease, Partial agenesis of the corpus callos... ORPHA:79243
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Scoliosis, Brachydactyly OMIM:613819
Rin2 Syndrome
Irregular dentition, Gingival overgrowth, Upper eyelid edema, Abnormal lip morphology, High palat... ORPHA:217335
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Micrognathia, ... ORPHA:444072
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyph... OMIM:231070
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Micrognathia, Short phalanx of finger, Joint laxity, Short toe, Gingival overgrowth, ... OMIM:225410
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Atrial septal def... OMIM:615582
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thum... OMIM:609053
Cree Mental Retardation Syndrome
Cleft soft palate, Micrognathia OMIM:606851
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Wide n... ORPHA:2780
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Absent lacrimal punctum, Telecanthus, Anteverted nares, Posteriorly rotated ea... ORPHA:228396
Renpenning Syndrome 1
Mandibular prognathia, Brittle hair, Micrognathia, Protruding ear, High palate, Short philtrum, A... OMIM:309500
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short neck, Nasolacrimal duct obstruction, Abnormal form of the vertebral bodies, ... ORPHA:3218
48,Xxxy Syndrome
Mandibular prognathia, Short neck, Depressed nasal ridge, Clinodactyly of the 5th finger, Abnorma... ORPHA:96263
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Cardiomegaly, Micrognathia, Metaphyseal widening, Sparse hair, Progress... OMIM:252500
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Conductive hea... OMIM:600373
Radio-Renal Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micromelia... ORPHA:3015
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Amish Lethal Microcephaly
Cleft soft palate, Micrognathia ORPHA:99742
Joubert Syndrome 16
Encephalocele, Renal cyst, Polydactyly, Nephronophthisis, Dandy-Walker malformation OMIM:614465
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... OMIM:617405
D-Bifunctional Protein Deficiency
Osteopenia, Epicanthus, Decreased muscle mass, Depressed nasal bridge, Micrognathia, Decreased ne... OMIM:261515
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundum atria... OMIM:612562
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Ptosis, Short metacarpal, Long eyebrows, Hypertelorism, Cleft upper lip, W... OMIM:201180
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Sandal gap, Depressed nasal bridge, Kyphosis, Bulbous nose, Thick lower li... OMIM:300354
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Low-set, posteriorly rotated ears, A... ORPHA:59315
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Submucous cleft hard palate, Thick l... OMIM:619103
Stickler Syndrome, Type I
Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous cleft hard palate, Pierre-Robin... OMIM:108300
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Mosaic Trisomy 16
Single transverse palmar crease, Anteriorly placed anus, Atrial septal defect, Syndactyly, Hyposp... ORPHA:1708
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Abnormal diaphysis morp... ORPHA:1657
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Postaxial hand polydactyly, Chronic kidney disease, Hydrocephalus, Con... OMIM:615630
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Hypertelorism, Micr... OMIM:312150
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... ORPHA:2091
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Lat... OMIM:300166
Macs Syndrome
Irregular dentition, Epicanthus, Palpebral edema, Single transverse palmar crease, Micrognathia, ... OMIM:613075
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:114300
C Syndrome
Micromelia, Micrognathia, Congenital diaphragmatic hernia, High palate, Clinodactyly of the 5th f... ORPHA:1308
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Vesicoureteral reflux, Co... OMIM:157800
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Seizure, Dementia, Myoclonus, Semantic dementia, Memory impairment, Abnormal social be... ORPHA:1020
Peroxisome Biogenesis Disorder 1A (Zellweger)
Single transverse palmar crease, Micrognathia, High, narrow palate, Subependymal cysts, Aminoacid... OMIM:214100
Noonan Syndrome 14
High, narrow palate, Sparse hair, Scapular winging, Sparse eyebrow, Prominent nasolabial fold, De... OMIM:619745
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde... OMIM:109400
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Atrial se... ORPHA:500150
Microcephaly-Deafness-Intellectual Disability Syndrome
Microcephaly, Everted lower lip vermilion, Abnormal palate morphology, Micrognathia ORPHA:2533
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Telecanthus, Hypospadias, Hypoplasia of the maxilla, Hydroc... OMIM:601499
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, Hyposmia, Failure... ORPHA:2250
Lathosterolosis
Epicanthus, Toe syndactyly, Hypoplasia of penis, Anteverted nares, Hearing impairment, Micrognath... ORPHA:46059
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ... OMIM:618356
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo... ORPHA:828
Thoracoabdominal Syndrome
Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... OMIM:604292
Melkersson-Rosenthal Syndrome
Facial palsy, Furrowed tongue OMIM:155900
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ptosis, Epicanthus, Prominent nasal bridge, H... ORPHA:1587
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... ORPHA:85166
Arboleda-Tham Syndrome
Mandibular prognathia, Secundum atrial septal defect, Anteverted ears, Downturned corners of mout... OMIM:616268
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Aplasia of the bladder, High palate, Hypoplasia of... OMIM:200980
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand,... OMIM:618291
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Thick nasal alae, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Retrog... ORPHA:163961
Holt-Oram Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... ORPHA:392
Atelis Syndrome 1
Glue ear, Ventricular septal defect, Prominent nose, Carious teeth, Microtia, High palate, Long p... OMIM:620184
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, High palate, Hypoplastic iliac wing, Abnormal vertebral mor... ORPHA:93315
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Microt... OMIM:141300
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned... OMIM:194190
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Choanal atresia, Facial palsy, Carious teeth, Preaxial hand polydactyly... ORPHA:2316
Short Stature, Microcephaly, And Endocrine Dysfunction
Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Long nose, Broad nasal tip, Se... OMIM:616541
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose OMIM:170100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... OMIM:309583
Megalencephaly
Atrial septal defect, Long penis, Wide nasal bridge, Genu valgum ORPHA:2477
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein... ORPHA:709
Cardiac-Valvular Ehlers-Danlos Syndrome
Dental crowding, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobility of distal inte... ORPHA:230851
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge OMIM:614019
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... OMIM:271640
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Low anterior hairline, Nephrocalcinosis, Premature grayin... ORPHA:769
Cog5-Cdg
Neurogenic bladder, Posteriorly rotated ears, Urinary incontinence, Camptodactyly of finger, Prom... ORPHA:263487
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil... ORPHA:1973
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Absent nasal bridge, Neonatal d... OMIM:617925
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Renal hypoplasia, Overfolded helix, Upslanted palpebr... OMIM:613735
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Choanal atresia, Microg... OMIM:156400
Genitopatellar Syndrome
Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture, Anteriorly pl... OMIM:606170
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Otitis media, Vesicoureteral r... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Otitis media, Vesicoureteral r... ORPHA:353277
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Sensorineural he... OMIM:608154
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Urinary incontinence, Hypoplasia of the maxilla, Lower limb amyotrophy, Urinary... OMIM:300266
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Pr... ORPHA:2879
Lateral Meningocele Syndrome
Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Micrognathia, Coarse hair, High pa... OMIM:130720
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thick eyebrow, Telecanthus, Abnormal pinna morphology, Symblepharon, Sternocleidomast... ORPHA:488434
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Microd... OMIM:606744
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... OMIM:129900
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia OMIM:612776
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorption, Microcephaly, Pate... ORPHA:452
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... OMIM:132400
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Kabuki Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, Protruding ear, High palat... ORPHA:2322
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal limb epiphysis morphology, Prominent nose, Metaphyseal sclerosis, Flat acetabular roof, ... ORPHA:2976
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Atrial septal defect... OMIM:617063
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, Downturned ... OMIM:619522
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Micromelia, Abnormal eyelid morphology, Micrognathia, Flexio... ORPHA:2671
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short nose ORPHA:329178
Okamoto Syndrome
Facial hypertrichosis, Tented upper lip vermilion, Urinary incontinence, Primum atrial septal def... ORPHA:2729
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Joint sti... ORPHA:1801
Pallister-Hall Syndrome
Ectopic kidney, Depressed nasal ridge, Holoprosencephaly, Atrial septal defect, Micropenis, Atrio... ORPHA:672
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Wide nasal bridge, Protruding ear, Narrow pa... OMIM:618302
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, High palate,... OMIM:219200
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... ORPHA:3097
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, Short long bone, Talipes e... OMIM:224410
Triploidy
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestina... ORPHA:3376
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence, Flexion contracture, Downturned corners of mouth, Microretrognathia, Radial... OMIM:301041
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Cleft palate, Micrognathia OMIM:602196
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial agenesis of the corpus c... OMIM:617478
Arterial Tortuosity Syndrome
Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, Pulmonary artery stenos... ORPHA:3342
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Epicanthus, Exaggerated cupid's bow, Underdeveloped nasal alae, Hyp... OMIM:614230
Glass Syndrome
Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig... OMIM:612313
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Patent foramen ovale... OMIM:619325
Muenke Syndrome
Tarsal synostosis, Hypertelorism, High, narrow palate, Cone-shaped epiphysis, Short foot, Proptos... ORPHA:53271
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Ventriculomegaly, Hyperplasia of the maxilla OMIM:618383
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Dental crowding, Micrognathia, Cleft hard palate, Synophrys, Nephrocalcinosis, Conductive hearing... OMIM:300990
Hsd10 Disease
Seizure, Abnormal social behavior, Myoclonus, Short attention span ORPHA:391417
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Upper limb peromelia, Hypoplasia of the maxilla, Synophr... ORPHA:1299
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Protrudi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Protrudi... ORPHA:363958
Microlissencephaly-Micromelia Syndrome
Palpebral edema, Bilateral single transverse palmar creases, Micromelia, Short neck, Long philtru... ORPHA:50810
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of... ORPHA:239
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Anteverted nare... OMIM:619879
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Highly arc... OMIM:619124
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Long phil... OMIM:616430
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Nephroblastoma, Rhabdo... ORPHA:77301
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Larsen-Like Syndrome
Kyphoscoliosis, Hypertelorism, Wide anterior fontanel, Dental malocclusion, Cleft palate, Absent ... OMIM:608545
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement... OMIM:261540
Alg6-Cdg
Hypertelorism, Shortening of all distal phalanges of the fingers, Macroglossia, Scoliosis, Brachy... ORPHA:79320
Lathosterolosis
Micrognathia, High palate, Conductive hearing impairment, Thick upper lip vermilion, Anteverted n... OMIM:607330
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Abnormality of t... ORPHA:107
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Micromelia, Abnormality of the dentition, Bowing of the legs, Crani... OMIM:241500
Congenital Disorder Of Glycosylation, Type Iic
Short foot, Bulbous nose, Periodontitis, Brachydactyly OMIM:266265
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... ORPHA:110
Short Stature-Micrognathia Syndrome
Joint laxity, Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Coxa valga, Bowing ... OMIM:617164
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... ORPHA:2752
Rauch-Steindl Syndrome
Epicanthus, Telecanthus, Depressed nasal bridge, Sacral dimple, Highly arched eyebrow, Hypertelor... OMIM:619695
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Renal cyst, Protruding ear, Clinodactyly of the 5th finger, Micropen... ORPHA:464306
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Blepharitis ORPHA:163934
Sialuria
Thin upper lip vermilion, Epicanthus, Hypertelorism, Synophrys, Wide nasal bridge, 2-3 toe syndac... OMIM:269921
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Low anterior hairline, Partial duplication of the distal ph... OMIM:101400
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, Downturned corners of ... ORPHA:79500
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga,... ORPHA:356961
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Sparse eyelashes, Hypospadias, Sparse eyebrow, Bifid nasal tip, Bilater... OMIM:618874
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Steroid-dependent nephrotic syndrome, Urinary ... OMIM:300912
Lymphatic Malformation 5
Cleft palate OMIM:153200
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Pentalogy Of Cantrell
Encephalocele, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Renal age... ORPHA:1335
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent nose, Long nose, Micrognathia, Short neck, Highly arched eyebrow, Hypertelorism, Wide n... ORPHA:2995
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short toe, Short... OMIM:103580
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplas... OMIM:617895
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Neurooculocardiogenitourinary Syndrome
Epicanthus, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Patent ductus arteri... OMIM:618652
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Telecanthus, Hypertelorism, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Proptosis, Ab... OMIM:109120
Chromosome 13Q14 Deletion Syndrome
Single transverse palmar crease, Micrognathia, Anteverted ears, Deep philtrum, High palate, Holop... OMIM:613884
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Epicanthus, Micrognathia, Hyperlordosis, Synophrys, Dental malocclusion, Wide n... ORPHA:73223
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Epicanthus, Joint hypermobility, Osteoarthritis, Irregul... OMIM:130000
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Alopecia, Aganglionic megacolon, Optic nerve hypoplas... ORPHA:85284
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Wide nose, Short lingual frenulum, Broad nasal tip, Sparse eyebrow, Hypertelorism, Ve... ORPHA:1521
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly ORPHA:2150
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Campomelic Dysplasia
Micrognathia, Tibial bowing, Femoral bowing, Hypoplastic inferior ilia, Poorly ossified cervical ... ORPHA:140
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Generalized joint laxity, Protruding ear, High palate, Atrial septal defect, Abnormal duodenum mo... OMIM:601776
Momo Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Hypertelorism, Short neck, Thic... ORPHA:2563
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Short neck, Short metatarsal, Deeply set eye, High palate, Short metacarpal, Dep... OMIM:617157
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Orofacial cleft, High palate, Short philtrum, Low-... ORPHA:958
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Kyphoscol... ORPHA:488642
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ... ORPHA:79106
Pontocerebellar Hypoplasia, Type 12
Rocker bottom foot, Micrognathia, Lateral ventricle dilatation, Talipes equinovarus, Overlapping ... OMIM:618266
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Cardiomegaly, Abnormal thu... ORPHA:324410
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... OMIM:265000
Geleophysic Dysplasia 1
Anteverted nares, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital femoral epiphysi... OMIM:231050
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space... OMIM:616737
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Micropenis, Genu varum, ... OMIM:613803
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... OMIM:619127
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Hypertelorism, Micrognathia, Metaphyseal widening, Abnormal form of the vertebr... ORPHA:73230
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Cleft palate OMIM:603543
Gapo Syndrome
Micrognathia, High, narrow palate, Protruding ear, Eruption failure, Sparse hair, Tubulointerstit... OMIM:230740
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Tibial bowing, Protruding ear, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, V... ORPHA:500095
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Micrognathia, Volvulus, Short nose OMIM:617802
Noonan Syndrome 7
Curly hair, Epicanthus, Depressed nasal bridge, Thickened helices, Joint hypermobility, Cubitus v... OMIM:613706
Crouzon Syndrome
Choanal atresia, Hearing impairment, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Nar... ORPHA:207
Holoprosencephaly 11
Cleft lip, Agenesis of corpus callosum, Cleft palate, Microcephaly OMIM:614226
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... OMIM:610205
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ... OMIM:227270
Treacher Collins Syndrome 1
Choanal atresia, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid glan... OMIM:154500
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Kyphoscoliosis, Hypertelorism, Short foot, Hammertoe, Camptodactyly,... OMIM:275900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choan... OMIM:620186
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypopl... ORPHA:1512
Larsen Syndrome
Short metatarsal, Shallow orbits, Conductive hearing impairment, Atrial septal defect, Spina bifi... OMIM:150250
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Clinodactyly of the 5th finger, Dilated third ventricle, Absent eyebrow, Alopecia, Tapered finger... ORPHA:544488
Jansen-De Vries Syndrome
Thin upper lip vermilion, Anteverted nares, Hyperlordosis, Small hand, Short foot, Wide mouth, Br... OMIM:617450
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hyper... ORPHA:2484
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Osteopenia, Femoral bowing, Anteverted nares, Depressed nasal bridge... OMIM:618188
Monosomy 13Q34
Epicanthus, Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Prominent nose, Broad na... ORPHA:96168
Meckel Syndrome, Type 9
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Hypertelorism, Micr... OMIM:253290
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Rhizomelia, Allergic rhinitis, Elbow contracture, Ulnar deviation of the wr... OMIM:618162
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit... OMIM:601803
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Martsolf Syndrome 2
Overlapping toe, Camptodactyly of finger, Broad nasal tip, Lateral ventricle dilatation, Camptoda... OMIM:619420
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... ORPHA:235
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism... ORPHA:2658
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomelia, Epicanthus, Hypospa... OMIM:607143
Tetraploidy
Microcephaly, Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing ORPHA:3305
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Ventricular septal defect, Ectopic kidney, Neonatal death, Cystic renal dyspla... OMIM:613730
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Hypospadias, Depressed nasal bridge, Posteriorly rotated ears, Blepharo... OMIM:603736
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... OMIM:250220
Macrocephaly/Autism Syndrome
High palate, Short nose, Depressed nasal bridge, Long philtrum OMIM:605309
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Rib segmentation abnormalities, Hypospadias... ORPHA:2311
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Cleft palate, Micrognathia OMIM:614120
Mosaic Trisomy 8
Micrognathia, Protruding ear, High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger,... ORPHA:96061
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Deep philtrum, Synophrys, Downturned corners of mouth, Vesicoureteral reflux... ORPHA:163956
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Conjunctivitis, Atrial septal defect, Patent foramen ovale, Patent ductus ar... ORPHA:505248
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Thin upper lip vermilion, Rhizomelia, Short iliac bones, Metaphyseal widening, Wide nasal bridge,... OMIM:614376
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Posteriorly rotated ears, Broad proximal phalanges of the hand, Choanal atresia, Cle... OMIM:607597
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Underdeveloped nasal alae, Denta... OMIM:619005
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensorineural hearing... OMIM:194350
Lowry-Wood Syndrome
Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal ... ORPHA:1824
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Right atrial enlargem... OMIM:614008
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Epicanthus, Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of fing... OMIM:618724
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Hypertelorism, Sparse eyebrow, Wide nasal bridge, Cleft palate, Ptosis ORPHA:66629
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Tapered finger, Sensorineural hearing impairment, Flexion contracture, Hyper... ORPHA:544503
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Hearing impairment, Micrognathia, Nephrocalcinos... OMIM:208085
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... ORPHA:2791
Gabriele-De Vries Syndrome
Micrognathia, High palate, Finger joint hypermobility, Patent foramen ovale, Agenesis of corpus c... ORPHA:506358
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Short philtrum, Abnormal bone ossification, Clinodacty... ORPHA:79324
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Choanal atresia, Cleft upper lip, Sensorineural hearing impairment, Anosmia, Cleft pa... OMIM:147950
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Attention deficit hyperactivity disorder... ORPHA:64280
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Thyroid lymphangiectasia, ... OMIM:235255
Craniofacial Microsomia 1
Occipital encephalocele, Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Anotia, Limbal ... OMIM:164210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Atrial septal defect, Thickened hel... OMIM:617506
Rhyns Syndrome
Brachydactyly, Radial bowing, Deeply set eye, Short long bone, Short femoral neck, Ptosis OMIM:602152
Dend Syndrome
Anteverted nares, Bilateral ptosis, Downturned corners of mouth, Long philtrum, Clinodactyly of t... ORPHA:79134
Thoracomelic Dysplasia
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Joint hyperfl... ORPHA:1803
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Wide nose, Telecanthus, Hypertelorism, Abnormal eyelash morphology, Sparse ey... ORPHA:2399
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bones of the up... ORPHA:371428
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... OMIM:613451
Campomelia, Cumming Type
Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micromelia... ORPHA:1318
Axenfeld-Rieger Syndrome
Telecanthus, Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:782
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi... OMIM:619227
8P11.2 Deletion Syndrome
Atrial septal defect, Epicanthus, Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Exte... ORPHA:251066
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal t... ORPHA:666
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Pulmonary artery atresia, Ne... OMIM:601186
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Proximal placement of thumb, Highly arched eyebrow, Secundum atrial sep... OMIM:619121
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Neu-Laxova Syndrome 2
Finger syndactyly, Ablepharon, Toe syndactyly, Rocker bottom foot, Hypertelorism, Micrognathia, S... OMIM:616038
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, Hypotelorism, High palate, Widely spaced te... OMIM:218330
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Epicanthus, Ventricular septal defect, Bowing of the legs, Ma... OMIM:617107
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Wide nasal bridge, Telecanthus, Short distal phalanx of finger ORPHA:1563
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Ventricular septal defect, Depressed nasal bridge, Esophageal atresia, Pulm... OMIM:301030
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Meckel Syndrome
Ureteral duplication, Micrognathia, Depressed nasal ridge, Urethral atresia, Dandy-Walker malform... ORPHA:564
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Ileal atresia, Micrognathia, Epicanthus inversus, Protruding ear, Holo... OMIM:618820
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Single transverse palmar crease, Br... ORPHA:466950
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Low anterior h... ORPHA:99843
Williams Syndrome
Osteopenia, Protruding ear, Nephrocalcinosis, Microdontia, Abnormal dental enamel morphology, Joi... ORPHA:904
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Depressed nasal bridge, Pos... OMIM:608091
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Uri... OMIM:617114
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Micrognathia, Eyelid coloboma, Conductive hearing impa... OMIM:263750
Down Syndrome
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... OMIM:190685
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Anteverted nares, Depressed nasal br... ORPHA:2719
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Brittle hair, Congenital diaphr... OMIM:305600
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Pa... OMIM:616462
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal de... OMIM:107480
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... ORPHA:2255
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Hypertelorism, 2-3 finger syndactyly, ... OMIM:269500
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture... OMIM:615656
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Megalocornea-Intellectual Disability Syndrome
Epicanthus, Tapered finger, Hypertelorism, Micrognathia, Kyphosis, Wide nasal bridge, High palate... ORPHA:2479
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Deep philtrum, Synophrys, Depressed nasal r... ORPHA:2162
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Hypospadias, Depressed nasa... OMIM:619479
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Stillb... OMIM:614922
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Ventriculomegaly, Ten... ORPHA:521426
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Epicanthus, Prominent nasal bridge, Broad nasal tip, Hypertelorism, Micrognathia, Wide nasal brid... OMIM:300749
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Dental crowding, Optic atrophy, 2-3 toe synda... ORPHA:313892
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Hearing impairment, Blepharop... ORPHA:2728
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, High palate, Shallow orbits, Thickened helices, Broa... OMIM:608328
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hypertel... ORPHA:1782
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Prominent nose, Micrognathia, Tibial bowi... ORPHA:453510
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypertelorism, Hypoplasia of the ma... ORPHA:50814
Ring Chromosome 22 Syndrome
Epicanthus, Protruding tongue, Bulbous nose, 2-3 toe syndactyly, Large hands, Thick vermilion bor... ORPHA:1446
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited w... OMIM:617809
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Congenital hip dislocation, Anteverted nares, Thick hair, Broad nasal tip,... ORPHA:357074
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary artery, Midgu... ORPHA:2326
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Limbal dermoid,... ORPHA:857
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Geleophysic Dysplasia 2
Thin upper lip vermilion, Ovoid vertebral bodies, Hypertelorism, Cone-shaped epiphysis, Short foo... OMIM:614185
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Posta... OMIM:617527
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Anteverted n... OMIM:602782
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Ge... OMIM:264090
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Short philtrum, Widely spaced... OMIM:300967
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, D... OMIM:619148
Barber-Say Syndrome
Delayed eruption of teeth, Ablepharon, Telecanthus, Anteverted nares, Hypertelorism, Bulbous nose... ORPHA:1231
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... OMIM:607361
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Broad palm, Narrow palat... OMIM:277600
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An... ORPHA:2554
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Microcephaly, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ven... ORPHA:2306
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blepharitis OMIM:602400
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal ... OMIM:105650
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto... OMIM:173800
Aase-Smith Syndrome I
Open mouth, Dandy-Walker malformation, Ventricular septal defect, Cleft palate OMIM:147800
Gm1 Gangliosidosis Type 1
Spatulate ribs, Hypoplastic vertebral bodies, Cherry red spot of the macula, Broad metacarpals, D... ORPHA:79255
Meier-Gorlin Syndrome 6
Microretrognathia, Entropion, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdevelope... OMIM:616835
Micro Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Micrognathia, Joint sti... ORPHA:2510
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Malformed lacrimal duct, Cutane... OMIM:219000
Xylt1-Cdg
Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Short long bone, Proptosis, Thick vermili... ORPHA:370930
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Low anterior hairline,... OMIM:619950
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Aganglionic megacolon, Ant... ORPHA:220497
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, High palate, Diaphragmatic eventration, Tapere... OMIM:618975
Malan Overgrowth Syndrome
Optic disc pallor, Depressed nasal bridge, Low posterior hairline, Slender long bone, Lateral ven... ORPHA:420179
Diamond-Blackfan Anemia
Radial artery aplasia, Micrognathia, Low anterior hairline, High palate, Triphalangeal thumb, Ade... ORPHA:124
Marinesco-Sjögren Syndrome
Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp... ORPHA:559
Oligodontia-Colorectal Cancer Syndrome
Absent eyebrow, Oligodontia, Short eyelashes OMIM:608615
Ramos-Arroyo Syndrome
Xerostomia, Smooth tongue, Choanal stenosis, Atrial septal defect, Anteverted nares, Depressed na... ORPHA:1051
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Left ventricular noncompaction cardiomyopat... OMIM:618719
Cog1-Cdg
Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valg... ORPHA:263508
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micrognathia, Flexion contracture, Knee flexion contracture, Downturned corners of mouth, High pa... OMIM:300868
Osteogenesis Imperfecta, Type X
Osteopenia, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing, Shallow orbits, Br... OMIM:613848
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... ORPHA:534
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... ORPHA:249
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Neurooculorenal Syndrome
Micrognathia, Aqueductal stenosis, Partial agenesis of the corpus callosum, Anteriorly placed anu... OMIM:620305
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal limb bone morphology, Abnormality of the urinary system,... ORPHA:2204
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... OMIM:618265
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Atrioventricular canal defect, Depressed nasal bridge, Accessory oral ... OMIM:617088
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Single transverse palmar crease, Anteverted ears, Protruding ear, Atrial s... ORPHA:459070
Distal Deletion 19P
Long toe, Low-set, posteriorly rotated ears, Alopecia, Arachnodactyly, Ventricular septal defect,... ORPHA:96129
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of th... ORPHA:2369
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Wide nose, Alopecia, Osteomyelitis, Abnormality of the dentition, Micrognathia, High palate, Recu... OMIM:618282
Kyphomelic Dysplasia
Micromelia, Micrognathia, Tibial bowing, Femoral bowing, Pterygium, Short metacarpal, Radial bowi... OMIM:211350
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Abnormality of the max... ORPHA:141099
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Premat... OMIM:194050
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Native American Myopathy
Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate... ORPHA:168572
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Renal cyst, Premature... OMIM:113620
Velocardiofacial Syndrome
Underdeveloped nasal alae, Bulbous nose, Submucous cleft hard palate, Velopharyngeal insufficienc... OMIM:192430
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nares, Pro... ORPHA:1454
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... ORPHA:79445
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Macrodontia, Anteverted nares, Protruding ear, Downturned corners of mouth, Tooth agenesis, Colpo... OMIM:618731
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Narrow palate, High palate, Hypopla... OMIM:615102
12Q14 Microdeletion Syndrome
Wide nose, Prominent nasal bridge, Hypertelorism, Micrognathia, Synophrys, Downturned corners of ... ORPHA:94063
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Posterior rib fusion, Atrial septal ... OMIM:265380
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Proteinu... ORPHA:1855
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Enlarged sylvian cistern, Depressed nasal bridge, Highly arched eyebrow,... OMIM:615802
Vici Syndrome
Micrognathia, Albinism, High palate, Atrial septal defect, Agenesis of corpus callosum, Median cl... OMIM:242840
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Micrognathia, Abnormali... ORPHA:90154
Primary Pulmonary Hypoplasia
Epicanthus, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphology, Micrognathia, Sec... ORPHA:2257
Meckel Syndrome 13
Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia, Micrognathia OMIM:617562
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Schisis Association
Micromelia, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cleft ... ORPHA:63862
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Optic nerve hypopl... OMIM:243605
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Depressed nasal bridge, Hypertelorism, Micrognathia, Long fingers, Short neck, Cleft ... OMIM:156610
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Dystrophic finge... ORPHA:2907
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa ... ORPHA:168549
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh... OMIM:613038
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Macrocephaly, Ret... ORPHA:52055
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Depressed nasal bridge, Joint hypermobility, Joint stiffness, Spa... OMIM:617988
Bent Bone Dysplasia Syndrome 2
Osteopenia, Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Depressed nasal bri... OMIM:620076
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Synophrys, Tracheoesophageal fistula, Cleft palate, Atrial sep... ORPHA:261272
Keutel Syndrome
Wide nose, Alopecia, Ventricular septal defect, Depressed nasal bridge, Hearing impairment, Under... ORPHA:85202
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... OMIM:612462
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Tapered fin... ORPHA:464311
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia OMIM:615397
Camptodactyly Syndrome, Guadalajara, Type Iii
Small hypothenar eminence, Telecanthus, Symblepharon, Hypertelorism, Short neck, Absent phalangea... OMIM:611929
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Rib exostoses, Spa... ORPHA:2108
Costello Syndrome
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, High palate, Atria... OMIM:218040
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Rectourethral fistula, High palate, Vesicoureteral reflux, Micro... OMIM:300000
Six2-Related Frontonasal Dysplasia
Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Hypertelorism, Broad nasal tip, Wid... ORPHA:488437
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Single transverse pa... OMIM:150230
Neurodevelopmental Disorder With Spasticity And Poor Growth
Epicanthus, Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Promin... OMIM:618076
Enlarged Parietal Foramina
Cleft lip, Cleft palate, Encephalomalacia, Short clavicles, Abnormal cerebral vein morphology, Ve... ORPHA:60015
Bohring-Opitz Syndrome
Cardiomegaly, Micrognathia, Synophrys, Congenital contracture, Agenesis of corpus callosum, Promi... ORPHA:97297
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... OMIM:216340
Meier-Gorlin Syndrome 5
Small earlobe, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epip... OMIM:613805
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Thin upper lip vermilion, Villous atrophy, Pericarditis, Proteinuria, D... OMIM:212065
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contrac... ORPHA:2457
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Upslanted palpebral fissure, Trapezoidal vertebral body, Short phal... OMIM:600092
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Diffuse cerebral atrophy, Micrognathia, Microcephaly, Pyloric stenosis, Cleft palate, Perimembran... ORPHA:83617
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Highly arched eyebrow, L... OMIM:618143
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Atrial septal defect, Depressed nasal bridge, Craniosynostosis, Tapered finger,... OMIM:620005
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Underdeveloped nasal alae, Prominent nose, Hypertelorism, Synophrys, Micrognathia, Conical tooth,... ORPHA:90024
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Ureteral s... OMIM:309350
Acromelic Frontonasal Dysostosis
Preaxial polydactyly, Patellar hypoplasia, Short tibia, Agenesis of corpus callosum, Encephalocel... OMIM:603671
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Houge-Janssens Syndrome 3
Epicanthus, Single transverse palmar crease, Broad nasal tip, Muscular ventricular septal defect,... OMIM:618354
Pseudo-Torch Syndrome 1
Microretrognathia, Renal insufficiency, Anteverted nares, Cleft lip, Patent ductus arteriosus, Hi... OMIM:251290
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Rhizomeli... OMIM:616229
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Posteriorly rotated ears... OMIM:614961
Müllerian Aplasia And Hyperandrogenism
Short neck, Synophrys, Cleft palate, Short philtrum, Cubitus valgus, Thick eyebrow, Brachydactyly ORPHA:247768
Skin Creases, Congenital Symmetric Circumferential, 2
Micrognathia, Short neck, Synophrys, Short palm, Clinodactyly of the 5th finger, Microdontia, Dep... OMIM:616734
Intellectual Developmental Disorder, Autosomal Dominant 29
Dental crowding, Synophrys, Deeply set eye, Cutaneous finger syndactyly, High palate, Lumbar hype... OMIM:616078
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Encephalocele, Aganglionic megacolon, Dextrocardia, Highly arc... ORPHA:220493
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Hip dysplasia, Macrodontia of permanent maxillary central incisor, Retrognathia, ... ORPHA:466722
Charge Syndrome
Aqueductal stenosis, Abnormal tibia morphology, Eyelid coloboma, Hypoplasia of the semicircular c... ORPHA:138
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Ureteral duplication, Ventriculomegaly, Renal agenesis, Absent thumb, Absent... OMIM:602200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Protruding ear, Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Tapered finger, ... ORPHA:268261
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Hartnup Disorder
Glossitis, Neutral hyperaminoaciduria OMIM:234500
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Urinary incontinence, Bicuspid aortic valve, Uplifted ear... ORPHA:261537
Peroxisome Biogenesis Disorder 4A (Zellweger)
Depressed nasal bridge, Hypertelorism, Upslanted palpebral fissure, Epiphyseal stippling, Epicant... OMIM:614862
Mogs-Cdg
Absent brainstem auditory responses, Wide nose, Alopecia, Fair hair, Cardiomegaly, Sensorineural ... ORPHA:79330
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Prominent nose, Long nose, Micrognathia, Atrial septal defect, Clinodactyly of the 5th finger, At... ORPHA:3047
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H... OMIM:309580
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Shoulder dislocation, Conductive hearing impairment, Phocomelia,... OMIM:171480
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Protruding ear, High palate, Bifid uvula, Joint laxity, Wide nasal bridge,... OMIM:620330
Noonan Syndrome 2
Micrognathia, High palate, Atrial septal defect, Atrioventricular canal defect, Sparse eyebrow, P... OMIM:605275
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Urinary incontinence, Bicuspid aortic valve, Uplifted ear... ORPHA:261552
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Prominent nose, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial... ORPHA:466791
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Short toe, Kyphosis, Brachydactyly ORPHA:3085
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Peroxisome Biogenesis Disorder 11A (Zellweger)
Depressed nasal bridge, Anteverted nares, Multiple renal cysts, Renal cyst OMIM:614883
Acrocephalopolydactylous Dysplasia
Epicanthus, Micromelia, Hypertelorism, Short neck, Postaxial hand polydactyly, Upslanted palpebra... OMIM:200995
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Distal Deletion 3P
Epicanthus, Telecanthus, Anteverted nares, Sacral dimple, Blepharophimosis, Hypertelorism, Microg... ORPHA:1620
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Hypoplasia of the maxilla, Sparse hair, Microdontia, Cryptophthalmos, Absent... ORPHA:920
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Microcephaly, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hyd... OMIM:225790
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Horizontal ribs, Chro... OMIM:208500
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Hypoplasia of t... OMIM:613717
Microcephaly 13, Primary, Autosomal Recessive
Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Small hand, Simplified gyral... OMIM:616051
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, Supernumerary nipple, Arteria... OMIM:618653
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Abnormal pinna morphology,... OMIM:302960
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Urinary incontinence, Bicuspid aortic valve, Uplifted ear... ORPHA:2152
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... OMIM:612284
Meckel Syndrome 12
Bifid uvula, Anteverted nares, Wide nasal bridge, Micrognathia OMIM:616258
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Low anterior hairline, Short philt... OMIM:301022
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Urethr... ORPHA:1896
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Paganini-Miozzo Syndrome
Mandibular prognathia, Posteriorly rotated ears, Urinary incontinence, Downturned corners of mout... OMIM:301025
Specific Granule Deficiency 2
Brachydactyly, Sandal gap, Conical tooth, Tooth malposition, Amelogenesis imperfecta OMIM:617475
Den Hoed-De Boer-Voisin Syndrome
Widely spaced teeth, Amelogenesis imperfecta, 2-3 toe syndactyly, Smooth philtrum, Delayed erupti... OMIM:619229
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Micrognathia, Partial agenesis of the corpus callosum, Congenital fibrosis of extraocular muscles... ORPHA:300570
Waardenburg Syndrome, Type 1
Mandibular prognathia, Smooth philtrum, Telecanthus, White eyelashes, White eyebrow, Underdevelop... OMIM:193500
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, High palate, Shallow orbits, Absent eyebro... ORPHA:740
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... ORPHA:2633
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation, Dandy-Walker malformation ORPHA:3032
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Scoliosis, Short long bone, Camptodactyly OMIM:619751
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Skeletal muscle atrophy, Ventricular septal defect, Postaxial polydactyly, ... OMIM:603387
Charge Syndrome
Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hand monodactyly, H... OMIM:214800
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Sensorineural hearing im... OMIM:158900
Intellectual Developmental Disorder, Autosomal Recessive 72
Thin upper lip vermilion, Narrow nasal base, Posteriorly rotated ears, Wide nasal ridge, Prominen... OMIM:618665
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Mitral valve prolapse, Oligodon... OMIM:601216
Porphyria, Congenital Erythropoietic
Absent eyebrow, Erythrodontia, Loss of eyelashes, Conjunctivitis, Vertebral compression fracture,... OMIM:263700
Pontocerebellar Hypoplasia, Type 2E
Epicanthus, Wide nose, Micrognathia, Scoliosis, Short nose OMIM:615851
Cranioectodermal Dysplasia 3
Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3... OMIM:614099
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Prominent nasal tip, Anteverted nares, Depressed... ORPHA:1675
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Lateral ventricle dilatation, Increased variability in muscl... OMIM:616816
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypospadias, Micromelia, Hypoplasia of the radius, Nonopposable triphalang... ORPHA:2252
Rothmund-Thomson Syndrome Type 2
Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Sparse hair, Short phalanx ... ORPHA:221016
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing impairment, Hypoplasia of the ulna... ORPHA:959
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hy... OMIM:607812
Ulbright-Hodes Syndrome
Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Depressed nas... ORPHA:3404
Proteus Syndrome
Decreased muscle mass, Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, Ab... ORPHA:744
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Micrognathia, Abnormality of the gingiva, Osteopathia striata, Widely spaced teeth, Hyperplasia o... ORPHA:513456
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar hypoplasia... OMIM:161200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Prominent nose, Low ... OMIM:619244
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Umbilical hernia, Short ribs, Absent or minimally ossif... OMIM:600972
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Mandibular prognathia, Decreased muscle mass, Dental crowding, Ectopic kidney,... ORPHA:3063
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Entropion, Hypoplastic right heart, Bulbous nose, Macrotia, Hip dislocation... OMIM:617403
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Abnormal tibia morphology, Protruding ear, High palate, Atrial septal de... ORPHA:363700
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Joint laxity, Hyperplasia of the maxilla OMIM:613671
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Downturned corners of mouth, Short nose, Convex nasal ... OMIM:619321
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Frontal balding, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Shor... ORPHA:93945
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Myasthenic Syndrome, Congenital, 10
Tongue atrophy, Proximal amyotrophy, Distal amyotrophy, Weakness of facial musculature, Ptosis OMIM:254300
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Limb joint contracture, Ankle flexion contracture, Micrognathia, Craniosy... ORPHA:284417
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamar... ORPHA:2930
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Single transverse palmar crease, Br... ORPHA:466943
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Telecanthus, Scapular winging, Depressed nasal bridge, Abnormal pinna mo... ORPHA:26791
Alagille Syndrome 1
Long nose, Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Hyp... OMIM:118450
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Situs inversus totalis, Femoral bowing, Hypertrophic cardiomyopathy, Stillbirth, A... OMIM:615415
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Microdontia, Hypertelorism, Thin lower lip vermilion, Wide nasal bridg... OMIM:619194
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Short nose, Optic atrophy, Low an... OMIM:614225
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Patent... OMIM:601005
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Dermatoglyp... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Dermatoglyp... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Dermatoglyp... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, High, narrow palate, Dermatoglyp... ORPHA:881
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... ORPHA:63446
Neuromuscular Oculoauditory Syndrome
Epicanthus, Posteriorly rotated ears, Simple ear, Decreased nerve conduction velocity, Sensorineu... OMIM:618733
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Otitis media, Vesicoureteral reflux, Atrial septal defect... ORPHA:353281
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hypoplasia of the bladde... ORPHA:79404
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Depressed nasal bridge, Broad nasal tip, Cleft lip, Patent ductus arteriosus, Cupped ... OMIM:618223
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Protruding tongue, Coxa valga, Joint stiffness, Patent ductus arteriosus, Optic... OMIM:230600
Magel2-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Thin upper lip vermilion, Hypopigmentation of hair, Osteopenia, Almond-shape... ORPHA:398069
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Cardiome... OMIM:608013
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Broad nasal ... OMIM:619777
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Epicanthus, Telecanthus, Overriding aorta, Ventricular septal defect, D... OMIM:601927
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Renal insufficiency, Hypospadias, Depressed nasal bridge, Hearing impairment, Sensori... OMIM:300661
Tolchin-Le Caignec Syndrome
Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, High palate, Narrow... OMIM:618971
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Sacral dimple, Hypertelorism, Preaxial hand polydactyly,... ORPHA:2211
Renal And Mullerian Duct Hypoplasia
Short nose, Micrognathia, Hypertelorism OMIM:266810
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Micrognathia, High, narrow palate, Congenital contractu... OMIM:208150
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Epicanthus, Telecanthus, Anteverted nares, Tented upper lip vermilion, Hypertelorism, Abnormality... ORPHA:847
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Arachnodactyly, Ventricular septal defect, Protruding ear, Aortic root aneurysm, Sh... OMIM:301039
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Sparse eyebrow, Micrognat... ORPHA:495875
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... ORPHA:69085
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Downturned corners of mouth, ... ORPHA:487796
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary te... OMIM:620099
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Hydrolethalus Syndrome 1
Micrognathia, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Hypos... OMIM:236680
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
17Q24.2 Microdeletion Syndrome
Thin upper lip vermilion, Thick eyebrow, Hypertelorism, Micrognathia, Short neck, Synophrys, Toot... ORPHA:529962
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Cerebral atrophy, Coarct... OMIM:618164
3Mc Syndrome 3
Sacral dimple, Highly arched eyebrow, Hypertelorism, Cleft upper lip, Epicanthus inversus, Preaxi... OMIM:248340
Mgat2-Cdg
Dental crowding, Hypertelorism, Kyphosis, Low hanging columella, Long eyelashes, Scoliosis, Recur... ORPHA:79329
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... OMIM:615503
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Epicanthus, Thick upper lip vermilion, Anteverted nares, Hypertelorism, In... OMIM:619727
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Posteriorly rotated ears, Bulbous nose, Sensorineural hearing impair... OMIM:615219
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Single transverse palmar crease, Micrognathia, Morgagni diaphragmatic hernia, Rectal ... OMIM:613177
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydrocephalus, Red... ORPHA:228308
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Progressive... ORPHA:522077
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, High palate OMIM:300676
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... OMIM:615981
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Alopecia, Epistaxis, Hearing impairment, Joint stiffness, Recu... ORPHA:397
Isolated Polycystic Liver Disease
Multiple renal cysts, Vascular dilatation ORPHA:2924
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Curved middle phalanx of the 4th toe, Epicanthus, Depressed nasal bridge, Ante... ORPHA:276413
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Prominent nasal bridge, Short toe, Sensorineural hearing impairment, Retrognathia, Co... OMIM:619269
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Epicanthus, Atrial septal defect, Homocystinuria, Dextrocardia, Cystath... OMIM:277380
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Woolly Hair Nevus
Widely-spaced incisors, Brachydactyly ORPHA:79414
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Patent ductus arte... ORPHA:1556
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Knee flexion contracture, Cutaneous finger syndactyly, Vert... OMIM:178110
Seckel Syndrome 9
Recurrent urinary tract infections, Ventricular septal defect, Congenital diaphragmatic hernia, M... OMIM:616777
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Otitis media, Shal... ORPHA:576
Peutz-Jeghers Syndrome
Melanonychia, Intestinal obstruction, Neoplasm of the nose, Nasal polyposis, Abnormality of the n... ORPHA:2869
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer... ORPHA:464329
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Epicanthus, Ventricular septal defect, Supernumerary nipple, Postaxial hand polydactyly, Patent d... ORPHA:2519
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Alopecia, Dandy-Walker malformation, Ventricular septal defect, Hydrocephal... OMIM:613001
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Hypoplastic ischia, Bowing of the legs, Hypertelorism, Micrognathia, Gingival overgr... ORPHA:313855
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Noonan Syndrome 3
Epicanthus, Hypoplastic nasal bridge, Ventricular septal defect, Anteverted nares, Thickened heli... OMIM:609942
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Abnormal finger morpho... ORPHA:3194
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Short neck, High, narrow palate, Synophrys, Prominent protruding coccyx, Deeply set eye, Microret... OMIM:300966
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... OMIM:602557
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Anteverted nares, Depressed nasal bridge, Tracheomalacia, Protruding tongue, Low anterior hairlin... OMIM:618797
Noonan Syndrome 8
Curly hair, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Palmoplantar cutis l... OMIM:615355
Transaldolase Deficiency
Ventricular septal defect, Depressed nasal bridge, Deep philtrum, Synophrys, Patent ductus arteri... OMIM:606003
Erythrokeratodermia Variabilis
Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger ORPHA:317
Mend Syndrome
Micrognathia, High palate, Abnormal nasal bridge morphology, Dandy-Walker malformation, Broad hal... ORPHA:401973
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, G... ORPHA:1439
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Depressed nasal ridge, Sparse hair, Bifid uvula, Hypospadias, Ante... OMIM:222470
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Loss of eyelashes ORPHA:2821
Lethal Acantholytic Erosive Disorder
Natal tooth, Absent eyebrow, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, 4-5 finge... ORPHA:158687
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... OMIM:267010
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... OMIM:164900
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... OMIM:123500
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Hypertelorism, Postaxial hand polydactyly, 2-3 finger syndacty... OMIM:217085
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t... ORPHA:1134
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, High palate, Otitis m... OMIM:612541
Congenital Sialidosis Type 2
Abnormality of the kidney, Protruding tongue, Hydrocephalus, Optic atrophy, Gingival overgrowth, ... ORPHA:93400
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Co... OMIM:118650
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodact... ORPHA:2604
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Everted upper lip vermilion, Depressed nasal bridge, Sparse eyelashes, Abnormal o... OMIM:305100
Noonan Syndrome 1
Micrognathia, High, narrow palate, High palate, Atrial septal defect, Hypospadias, Patent ductus ... OMIM:163950
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Epicanthus, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge, Re... OMIM:601539
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Epicanthus, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus... ORPHA:85276
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Anteverted nares, Abnormal large intest... ORPHA:109
Dihydropyrimidinase Deficiency
Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia OMIM:222748
1P21.3 Microdeletion Syndrome
Micrognathia, Broad nasal tip, Upslanted palpebral fissure, Deeply set eye, Wide mouth, Short nose ORPHA:293948
Meester-Loeys Syndrome
Arachnodactyly, Hypertelorism, Gingival overgrowth, Cervical spine instability, Proptosis, High p... OMIM:300989
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure, Macrotia, Anal atr... ORPHA:93950
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes OMIM:258360
3Q29 Microduplication Syndrome
Ventricular septal defect, Abnormality of the dentition, Microcephaly, Deep philtrum, Cleft palat... ORPHA:251038
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Choanal atresia, Sagitt... OMIM:610199
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Synophrys, Protrudin... OMIM:619475
Dyskeratosis Congenita
Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Alo... ORPHA:1775
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Secundum atrial septal defect, Metaphyseal widening, Subarterial ven... ORPHA:99646
Juvenile Polyposis Of Infancy
Depressed nasal bridge, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Pate... ORPHA:79076
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Satoyoshi Syndrome
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... OMIM:600705
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Conductive hearing impairment, Depressed nasal ridge, Limb undergrow... ORPHA:1861
Diamond-Blackfan Anemia 10
Ventricular septal defect, Choanal atresia, Posteriorly rotated ears, Ectopic kidney, Micrognathi... OMIM:613309
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Ptosis, Toe syndactyly, Epicanthus, Underdeveloped nasal alae, Hypertelorism, ... ORPHA:264200
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:609192
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Spinal muscular atrophy, Secundum atrial septal defect, Multiple prenatal frac... OMIM:616866
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Choanal stenosis, Atrichia, Neonatal death, Atrial septal defect, Dystrophic fingernails, Absent ... OMIM:308205
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Atrial sep... ORPHA:290
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Kyphoscoliosis, High palate, Clinodactyly of the 5th finger, Cubitus valgus, R... OMIM:620237
Fanconi Anemia, Complementation Group F
Atrial septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radi... OMIM:603467
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Tongue atrophy, Skeletal muscle atrophy... ORPHA:101085
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... ORPHA:2249
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh... ORPHA:3003
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion ... OMIM:259050
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Optic nerve hypoplasia, Low anterior hairline, Lateral ventricle dilatation... OMIM:618736
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Nephropathy, Vascul... OMIM:617056
Deeah Syndrome
Prominent nasal tip, Epicanthus, Hearing impairment, Malabsorption, Short nose, Narrow palate, Lo... OMIM:619004
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Atrial sept... OMIM:614857
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, M... ORPHA:1724
Orthostatic Hypotension 1
Nasal congestion, Ptosis, High palate, Brachydactyly OMIM:223360
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Bro... OMIM:615222
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... OMIM:187600
Dominant Beta-Thalassemia
Bowing of the long bones, Depressed nasal bridge, Hypoplasia of the musculature, Abnormality of t... ORPHA:231226
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
46,Xy Sex Reversal 4
Renal dysplasia, Distal symphalangism, Anteverted nares, Prominent nose, Micrognathia, Sensorineu... OMIM:154230
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Lateral ventricle dilatation, Distal amyotrophy, Congenital contracture,... OMIM:607596
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy, Areflexia of upper limbs, Upper limb muscle weakness, Talipes equinovarus, Lower ... OMIM:616155
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Facial palsy, Furrowed tongue ORPHA:2743
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Anteverted nares, Slow-growing hai... ORPHA:238468
6Q Terminal Deletion Syndrome
Hallux valgus, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ribs, Joint laxity, H... ORPHA:75857
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Combined Oxidative Phosphorylation Deficiency 2
Brachydactyly OMIM:610498
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Arachnodactyly, Prominent nasal bridge, Hypertelorism, Sparse eyebrow, Hyp... OMIM:617011
Arima Syndrome
Dilated fourth ventricle, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, St... OMIM:243910
Cohen-Gibson Syndrome
Epicanthus, Depressed nasal bridge, Coxa valga, Hypertelorism, Long fingers, Flared metaphysis, W... OMIM:617561
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Telecanthus, Ventriculomegaly, Anteverted nares, Diastasis recti, Uplif... OMIM:618548
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Mandibular prognathia, Epicanthus, Thick eyebrow, Exaggerated... OMIM:300896
Dubowitz Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Broad nasal tip, Carious teeth, Micrognathia, ... OMIM:223370
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Reduced bone mineral density, Wide mouth, Pulmonic stenosi... OMIM:615279
Progressive Osseous Heteroplasia
Brachydactyly ORPHA:2762
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Tented upper lip vermilion, Lateral ventricle dilatation, Talipes equinovarus, Long philtrum, Ptosis OMIM:619972
Hypotrichosis 14
Short eyelashes OMIM:618275
Hartsfield Syndrome
Syndactyly, Epicanthus, Median cleft lip, Hypospadias, Wide nose, Posteriorly rotated ears, Cleft... OMIM:615465
Mowat-Wilson Syndrome
Uplifted earlobe, Widely spaced teeth, Atrial septal defect, Agenesis of corpus callosum, Hypospa... OMIM:235730
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Trichorrhexis nodosa, Macroti... OMIM:601675
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Optic atrophy ORPHA:216873
Papillorenal Syndrome
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... OMIM:120330
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Deeply set eye, High palate, Short ph... ORPHA:261337
Aspartylglucosaminuria
Mandibular prognathia, Beaking of vertebral bodies, Abnormal morphology of ulna, Hypertelorism, A... ORPHA:93
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Microcephaly ORPHA:1667
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Optic atrophy, Colpocephaly, Hyperlysinuria, Ventriculomegaly OMIM:616034
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Single transverse palmar crease, Micrognathia, Flexion contracture, Bifid uvula, Disl... OMIM:130070
Neuroocular Syndrome
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Downturned corners of mouth, Wi... OMIM:619539
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Leopard Syndrome 1
Mandibular prognathia, Limited elbow movement, Depressed nasal ridge, Protruding ear, Micropenis,... OMIM:151100
Multiple Acyl-Coa Dehydrogenase Deficiency
Telecanthus, Depressed nasal bridge, Abnormal pinna morphology, Glutaric aciduria, Generalized am... OMIM:231680
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epi... ORPHA:157
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depressed nasal bridge, Shor... ORPHA:79444
Adnp Syndrome
Thin upper lip vermilion, Broad hallux, Depressed nasal bridge, Single transverse palmar crease, ... ORPHA:404448
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Single... OMIM:309801
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral... OMIM:610682
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... ORPHA:210122
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... OMIM:601356
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Decreased skull ossif... OMIM:602361
Occipital Horn Syndrome
High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the w... ORPHA:198
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Patent f... ORPHA:17
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect, Urinary incontinence OMIM:620094
D-2-Hydroxyglutaric Aciduria 1
Micrognathia, Glutaric aciduria, Subependymal cysts, D-2-hydroxyglutaric aciduria, Lateral ventri... OMIM:600721
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Sensorineural hearing impairment, Optic atroph... OMIM:249270
Intellectual Developmental Disorder, Autosomal Dominant 56
Thin upper lip vermilion, Sensorineural hearing impairment, Protruding ear, Upslanted palpebral f... OMIM:617854
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Submuc... OMIM:157170
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Bazex-Dupre-Christol Syndrome
Joint hypermobility, Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Coarse hair,... OMIM:301845
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Cl... OMIM:614294
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Weill-Marchesani Syndrome
Short thumb, Brachydactyly ORPHA:3449
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, M... OMIM:614083
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Secundum atrial septal defect... OMIM:608688
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath... ORPHA:1300
Noonan Syndrome 10
Curly hair, Epicanthus, Ventricular septal defect, Sparse eyebrow, Patent ductus arteriosus, Palm... OMIM:616564
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger OMIM:277450
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala... OMIM:613795
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Dilated cardiomyopathy, Optic atrophy, 3-Methylglutari... OMIM:610198
Alg2-Cdg
Epicanthus, Downslanted palpebral fissures, Wide nasal bridge, Lateral ventricle dilatation ORPHA:79326
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Urinary incontinence, Depressed nasal bridge, Hydrocephalus, Palmoplantar cutis laxa,... OMIM:616482
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations OMIM:614678
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Cdags Syndrome
Sparse scalp hair, Ectropion, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Rectouret... OMIM:603116
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Sp... OMIM:252600
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar aplasia, Slender lon... OMIM:613804
Hereditary Orotic Aciduria
Hip dysplasia, Downslanted palpebral fissures, Wide nasal bridge, Hypertelorism ORPHA:30
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Esophageal varix, Pulmonic stenosis, Right ventricular hypertrophy, Um... OMIM:616028
Beta-Thalassemia Major
Bowing of the long bones, Depressed nasal bridge, Hypoplasia of the musculature, Abnormality of t... ORPHA:231214
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... OMIM:614188
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Telecanthus, Micromelia, Increased skull ossification, Abnorm... ORPHA:1422
Craniosynostosis 6
Bicoronal synostosis, Craniosynostosis, Sensorineural hearing impairment, Low anterior hairline, ... OMIM:616602
Lelis Syndrome
Mandibular prognathia, Carious teeth, Yellow nails, Absent lower eyelashes, Furrowed tongue, Upsl... ORPHA:140936
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular s... OMIM:619268
Syndromic Diarrhea
Villous atrophy, Brittle hair, Gastritis, Bicuspid aortic valve, Ventricular septal defect, Hypop... ORPHA:84064
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... OMIM:182250
Martin-Probst Syndrome
Epicanthus, Telecanthus, Hypertelorism, Micrognathia, Thick lower lip vermilion, Dental malocclus... OMIM:300519
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tented upper lip vermilion, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen... OMIM:619424
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Epicanthus, Secundum atrial septal defect, 2-3 toe cutaneous syndactyly... OMIM:620242
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Hypoplas... ORPHA:1101
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematuria, Aplasia/Hypo... ORPHA:1765
Tuberous Sclerosis 1
Dental enamel pits, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cyst, Renal cell carcinoma,... OMIM:191100
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Micrognathia, High, narrow palate,... ORPHA:96182
Congenital Myopathy 11
Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Depressed nasal bridge, Rectal fi... ORPHA:49
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventriculomegaly, Ventricular septal defect, Postaxial polydactyly, Hydrocep... OMIM:219730
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Dementia, Myoclonus ORPHA:308
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia, Sensorineural hearing impairment, Orofaci... ORPHA:79107
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Sparse hair, Microdontia, Short phalanx of finger, Genu varum, C... ORPHA:221008
Odontoonychodermal Dysplasia
Sparse eyebrow, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent ... OMIM:257980
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Almond-shaped palpebral fissure, Optic atrophy, Gingival overgrowth, Colpoceph... OMIM:620352
Infantile Systemic Hyalinosis
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Osteo... ORPHA:2176
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Stüve-Wiedemann Syndrome
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... ORPHA:3206
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Sensorineural hearing impairment, Optic atrophy, Single n... OMIM:615636
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Lateral ... OMIM:617397
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Prot... OMIM:619534
Becker Nevus Syndrome
Supernumerary nipple, Micromelia, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Su... ORPHA:64755
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Long nose, Sensorineura... ORPHA:457351
Spondyloocular Syndrome
Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, Abnormalit... OMIM:605822
Icf Syndrome
Communicating hydrocephalus, Epicanthus, Depressed nasal bridge, Malabsorption, Protruding tongue... ORPHA:2268
Alveolar Echinococcosis
Abnormal pelvis bone morphology, Abnormal pericardium morphology, Pancreatic cysts, Vertigo, Bone... ORPHA:284
Alg8-Cdg
Hypertelorism, Macroglossia, Talipes equinovarus, Camptodactyly, Brachydactyly ORPHA:79325
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Selective tooth agenesis, Micrognathia, Fragile teeth, Dental malocclusion, H... ORPHA:2959
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Curly hair, Epicanthus, Sparse scalp hair, Ventricular septal defec... OMIM:607721
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Microphthalmia, Syndromic 6
Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli... OMIM:607932
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Renal cyst, Renal cell carcinoma, Large intestinal poly... OMIM:135150
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Anal stenosis, Epicanthus, Sanda... OMIM:251260
You-Hoover-Fong Syndrome
Accessory oral frenulum, Microcephaly, Cleft palate, Vascular ring, Coarctation of aorta, Double ... OMIM:616954
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Renal cyst, Stroke-like ep... ORPHA:137675
Noonan Syndrome
Brachydactyly, Hypertelorism, Micrognathia, Thick lower lip vermilion, Radioulnar synostosis, Pro... ORPHA:648
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibular epiphysis morphology, ... ORPHA:96190
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Hereditary Angioedema Type 1
Abnormal soft palate morphology, Abnormal uvula morphology, Tongue edema, Intestinal edema ORPHA:100050
Hepatoerythropoietic Porphyria
Erythrodontia, Loss of eyelashes, Keratoconjunctivitis, Seborrhoeic blepharitis, Ectropion ORPHA:95159
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Syno... OMIM:301091
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Weill-Marchesani Syndrome 3
Brachydactyly OMIM:614819
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum OMIM:103050
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Abnormal carpal morphology, Madelung deformity, Bilateral breast hypoplasia, Hip ... ORPHA:319675
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Ferguson-Bonni Neurodevelopmental Syndrome
Unilateral ptosis, Coronary-pulmonary artery fistula, Micrognathia, Congenital diaphragmatic hern... OMIM:619699
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Hypospadias, Submucous cleft hard palate, Flexion contracture, Generalized limb mus... OMIM:618891
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Lower limb amyotrophy, Talipes equinovarus, Limb hypertonia ORPHA:401815
Renal Agenesis, Bilateral
Epicanthus, Hypertelorism, Non-midline cleft lip, Abnormal sacrum morphology, Depressed nasal rid... ORPHA:1848
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... OMIM:620285
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Micrognathia, Bilateral ptosis, Patent ductus arteriosus, Thick lower lip ... ORPHA:555877
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Lipoid Proteinosis
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... ORPHA:530
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Multiple prenatal fractures, Patent ductus arte... OMIM:616867
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Atrial septal defect, Epicanthus, Transient ischemic attack, De... OMIM:600268
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid mor... ORPHA:2396
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... OMIM:252160
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,... OMIM:153400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Absent pulmonary artery, Patent ductus arteriosus, Cl... OMIM:600460
Joubert Syndrome 39
Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ... OMIM:619562
Cach Syndrome
Flexion contracture, Optic atrophy, Renal hypoplasia, Lateral ventricle dilatation, Arthrogryposi... ORPHA:135
Adams-Oliver Syndrome 1
Encephalocele, Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supern... OMIM:100300
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Abnormality of the hand, Bone cyst, Lateral ventricle dilatation, Pathologi... OMIM:221770
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis,... ORPHA:85199
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Proteinuria, Dysplastic corpus callosum, Sensorineural hearing impairment, Chro... ORPHA:488627
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Pancreatic cy... OMIM:208540
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine ORPHA:51208
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Mac... ORPHA:2221
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria ORPHA:445038
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Ptosis, Brachydactyly, Short palm ORPHA:3217
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Rena... ORPHA:3186
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Agel Amyloidosis
Tongue atrophy, Proteinuria, Facial palsy, Bilateral ptosis, Xerostomia, Stage 5 chronic kidney d... ORPHA:85448
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Depressed nasal bridge, Joint hypermobility, High, narrow palate, Sens... OMIM:619575
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Epicanthus, Ventricular septal defect, Secundum atrial septal defect, Patent d... OMIM:619909
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea, Lymph... OMIM:602579
Cystic Echinococcosis
Bone cyst, Renal cyst, Abnormal heart morphology, Membranous nephropathy, Ovarian cyst, Abnormali... ORPHA:400
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Hemiatrophy ORPHA:306669
Molybdenum Cofactor Deficiency, Complementation Group A
Ventriculomegaly, Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary uroth... OMIM:252150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... OMIM:263200
Leprosy
Absent eyebrow, Autoamputation of digits, Epistaxis, Loss of eyelashes, Abnormal facial skeleton ... ORPHA:548
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depressed nasal bridge, Shor... ORPHA:79443
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Juvenile Sialidosis Type 2
Abnormality of the kidney, Protruding tongue, Optic atrophy, Gingival overgrowth, Abnormal heart ... ORPHA:93399
Axial Osteomalacia
Myopathy, Increased bone mineral density, Osteomalacia, Renal cyst OMIM:109130
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Optic atrophy, Stroke, Atrial septal... ORPHA:49827
Hardikar Syndrome
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Cleft soft ... OMIM:301068
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... OMIM:173900
Bdv Syndrome
Atrial septal defect, Micropenis, Macrotia, Micrognathia OMIM:619326
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Partial agenesis of the corpus callosum, Abnormal cartilage matrix, Epiphyseal ... ORPHA:86822
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Upper limb asym... ORPHA:90308
Band Heterotopia
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:600348
Oculotrichoanal Syndrome
Hypertelorism, Bifid nasal tip, Upper eyelid coloboma, Nasolacrimal duct obstruction, Cryptophtha... ORPHA:2717
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:615108
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Abnor... ORPHA:56
Hereditary Mucoepithelial Dysplasia
Alopecia, Tracheoesophageal fistula, Gingival overgrowth, Abnormality of the bladder, Hematuria, ... ORPHA:1839
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakne... ORPHA:466768
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Tented upper lip vermilion, Partial a... OMIM:619517
Wrinkly Skin Syndrome
Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, Scapular wing... OMIM:278250
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Limb hypertonia, Atrial septal defect, Patent f... OMIM:620327
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelor... ORPHA:96176
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata... OMIM:611773
Aicardi-Goutieres Syndrome 9
Renal insufficiency, Pericarditis, Proteinuria, Recurrent urinary tract infections, Pericardial e... OMIM:619487
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Bicuspid aortic valve, Deep philtrum, Atrial septal defect, Vesicoureteral reflux, Pa... ORPHA:438213
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Sensorineural hearing impairment, M... ORPHA:209905
Sotos Syndrome
Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Atrial ... ORPHA:821
X-Linked Agammaglobulinemia
Alopecia, Sinusitis, Osteomyelitis, Malabsorption, Sensorineural hearing impairment, Glossoptosis... ORPHA:47
Moderate Hemophilia A
Hip contracture, Epidural hemorrhage, Cartilage destruction, Intraventricular hemorrhage, Limitat... ORPHA:169805
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Choanal atresia, Hypertelorism, Cleft lip, Synophrys, Lacrimal duct a... OMIM:603457
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Cleft palate, Abn... ORPHA:79284
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:615109
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Hypoplasia of eyelid, Ablepharon, Hypertelorism... OMIM:200110
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... OMIM:613095
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Tuberous Sclerosis 2
Hearing impairment, Absence of renal corticomedullary differentiation, Retinal hamartoma, Gingiva... OMIM:613254
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... ORPHA:353253
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Epicanthus, Brittle hair, Dry hair, Cupped ear, Protruding ear, Upslanted palpebral fissure, Macr... ORPHA:93947
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Facial palsy, Lateral ventricle dilatation, Distal amyotrophy, Talipes equinovarus OMIM:256850
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Micrognathia OMIM:601374
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Abnormality of the kidney, Coarctation of aorta ORPHA:101028
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Prot... OMIM:175500
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic aneurysm, Bifid uvula, Joint l... ORPHA:284984
Manitoba Oculotrichoanal Syndrome
Broad nasal tip, Bifid nasal tip, Hypertelorism, Nasolacrimal duct obstruction, Eyelid coloboma, ... OMIM:248450
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Thin upper lip vermilion, Wide nasal bridge, Cardiomyopathy, Lateral ve... ORPHA:572798
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Sensorineural hearing impairment, Rickets, Nephr... ORPHA:18
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Rickets, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Johanson-Blizzard Syndrome
Single transverse palmar crease, Downturned corners of mouth, Anteriorly placed anus, Atrial sept... OMIM:243800
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Congenital foot contractures, Lateral ven... ORPHA:565624
Oculopalatocerebral Syndrome
Cleft palate, Microcephaly OMIM:257910
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l... ORPHA:974
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... OMIM:105830
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia OMIM:211890
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiom... ORPHA:116
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Bifid uvula OMIM:119500
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Fetal pyelectasis, Limb hypertonia OMIM:301058
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Osteopenia, Flexion contracture, Urinary bladder sphincter dysfunction, Oral ... ORPHA:79408
Congenital Erythropoietic Porphyria
Erythrodontia, Loss of eyelashes, Keratoconjunctivitis, Seborrhoeic blepharitis, Ectropion ORPHA:79277
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Abnormal position of hair whorl, Wide mouth, Lateral ventricle dilatation,... ORPHA:85290
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Concave nasal r... OMIM:602482
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Epicanthus, Wide nose, Abnormal nasolacrimal system morphology, Anteverted nares, A... ORPHA:2526
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Mpdu1-Cdg
Optic atrophy, Absence of acoustic reflex, Prominent frontal sinuses, Renal cortical cysts, Thin ... ORPHA:79323
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition OMIM:183400
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly OMIM:618048
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:158350
Neurofibromatosis-Noonan Syndrome
Epicanthus, Depressed nasal bridge, Posteriorly rotated ears, Secundum atrial septal defect, Cubi... OMIM:601321
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Mucoepithelial Dysplasia, Hereditary
Alopecia, Erythematous oral mucosa, Cor pulmonale, Keratoconjunctivitis, Hematuria, Furrowed tong... OMIM:158310
Solar Urticaria
Vertigo, Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia OMIM:601809
Cadds
Short nose, Micrognathia ORPHA:369942
Lamb-Shaffer Syndrome
Seizure, Abnormal social behavior ORPHA:530983
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... OMIM:620024
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Situs invers... ORPHA:991
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Postaxial polydactyly, High, narrow palate, Postaxial hand polydacty... OMIM:209900
Kawasaki Disease
Pericarditis, Abnormality of nail color, Proteinuria, Abnormal heart valve morphology, Myocarditi... ORPHA:2331
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus ORPHA:73256
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Tuberous Sclerosis Complex
Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ... ORPHA:805
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompact... OMIM:619167
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Epicanthus, Depressed nasal bridge, Hypertelorism, Long fingers, Talipes equinovarus, C... OMIM:613355
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Elbow flexion con... OMIM:148210
Diphallia
Ureteral duplication, Atrial septal defect, Rectoperineal fistula, Hypospadias, Renal duplication... ORPHA:227
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Optic atrophy, Renal cortical cysts, Thin vermilion border, Ventriculomegaly OMIM:609180
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Arterial... OMIM:614473
Semilobar Holoprosencephaly
Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, De... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, De... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, De... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, De... ORPHA:93924
Metachromatic Leukodystrophy, Juvenile Form
Seizure, Abnormal social behavior, Progressive psychomotor deterioration, Short attention span ORPHA:309263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, 11 pairs of r... OMIM:615287
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... ORPHA:99956
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Seizure, Dementia, Memory impairment... ORPHA:309271
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent aphthous s... OMIM:614868
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... ORPHA:2973
Tetraamelia Syndrome 1
Renal agenesis, Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, ... OMIM:273395
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Ptosis, Tongue atrophy, Skeletal muscle atrophy, Facial palsy, Hearing impai... OMIM:211530
Cinca Syndrome
Proptosis, Brachydactyly ORPHA:1451
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... ORPHA:93111
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrocephalus, Dilated... ORPHA:79282
Pmm2-Cdg
Mandibular prognathia, Osteopenia, Multiple joint contractures, Prominent nose, Intracranial hemo... ORPHA:79318
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Cowden Syndrome
Abnormal penis morphology, Abnormality of the kidney, Hearing impairment, Enlarged polycystic ova... ORPHA:201
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Patent ductus art... ORPHA:2847
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hemat... OMIM:619525
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Eyelid coloboma, Hand polydactyly, Tali... OMIM:217100
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Tongue atrophy, Weakness of facial musculature, Sensor... ORPHA:99949
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Recurrent upper respiratory tract inf... ORPHA:508542
Congenital Varicella Syndrome
Micromelia ORPHA:291
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Underdeveloped nasal alae, Micrognathia, Flexion... OMIM:614098
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Pearson Syndrome
Renal insufficiency, Median cleft lip and palate, Proteinuria, Hearing impairment, Lacticaciduria... ORPHA:699
Peroxisome Biogenesis Disorder 4B
Short nose, Single transverse palmar crease, Hypertelorism OMIM:614863
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Spinocerebellar Ataxia Type 36
Ptosis, Tongue atrophy, Skeletal muscle atrophy, Vertigo, Tongue fasciculations, Hearing impairment ORPHA:276198
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Peptic ulcer, Osteoporosis, Nephrolithiasis, Renal cyst, Hy... ORPHA:99880
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Micrognathia, Aminoaciduria, Protein-losing enteropath... OMIM:619991
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Peptic ulcer, Osteoporosis, Nephrolithiasis, Renal cyst, Hy... ORPHA:143
Slc39A8-Cdg
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... ORPHA:468699
Epidermal Nevus Syndrome
Osteopenia, Rhabdomyosarcoma, Weakness of long finger extensor muscles, Polycystic kidney dysplas... ORPHA:35125
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Tongue atrophy, Ptosis, Tongue fasciculations, Hearing impairment OMIM:614153
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... ORPHA:2237
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou... OMIM:236700
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... ORPHA:3044
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:98795
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ... ORPHA:89842
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Melkersson-Rosenthal Syndrome
Facial palsy, Cheilitis, Oligosacchariduria, Furrowed tongue, Macroglossia, Abnormal autonomic ne... ORPHA:2483
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lateral ventricl... OMIM:617296
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Myositis, Absent muscle fiber merosin, Facial palsy, ... ORPHA:258
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Malabsorption, Abnormal eyelid morphology, Cheilitis, Abno... ORPHA:37
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Congenital hip dislocation, Facial hypotonia, Limb joint contracture, Joint hy... ORPHA:404454
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the heart, Megacys... ORPHA:2241
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:411511
Lymphatic Malformation 13
Depressed nasal bridge, Unilateral deafness, Patent ductus arteriosus, Neonatal death, Long philt... OMIM:620244
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Dilated cardiomyopathy, Lacrimal duct atresia, Lateral ventric... OMIM:300952
Von Hippel-Lindau Disease
Papilledema, Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Vertigo, Upper ... ORPHA:892
Arteriosclerosis, Severe Juvenile
Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcification of the aorta, A... OMIM:208060
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Limitation of movement at ankles, Hypopigmentation of hair, Protruding ton... ORPHA:98794
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head OMIM:605274
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Hydrocephalus, Optic atrophy, Chyloper... ORPHA:538
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Pancreatic cysts, Esophage... ORPHA:731
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Hartnup Disease
Abnormal urinary color, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoaciduria ORPHA:2116
Pancreatic And Cerebellar Agenesis
Abnormal pinna morphology, Optic nerve hypoplasia, Joint stiffness, Secundum atrial septal defect... OMIM:609069
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Angelman Syndrome
Mandibular prognathia, Optic disc pallor, Protruding tongue, Optic atrophy, Wide mouth, Widely sp... ORPHA:72
Pgm3-Cdg
Allergic rhinitis, Narrow palpebral fissure, High palate, Chronic sinusitis, Brachydactyly ORPHA:443811
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou... ORPHA:158668
Lymphatic Malformation 6
Epicanthus, Abnormal pinna morphology, Micrognathia, Cupped ear, Varicose veins, Atrial septal de... OMIM:616843
Congenital Tracheomalacia
Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Patent ductus arteri... ORPHA:95430
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Microsporidiosis
Glossitis, Myositis, Sinusitis, Osteomyelitis, Myocarditis, Urethritis, Endocarditis, Keratoconju... ORPHA:2552
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... OMIM:115197
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Epilepsy, Progressive Myoclonic, 1B
Generalized myoclonic seizure, Atonic seizure, Myoclonus OMIM:612437
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Protruding tongue, Hand clenching, Ventriculomegaly, Limb hypertonia OMIM:619580
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Alopecia, Craniosynostosis, Oral mucosal blisters, Palmoplantar ker... ORPHA:79396
Adult-Onset Still Disease
Pericarditis, Cartilage destruction, Myocarditis, Recurrent pharyngitis, Arthritis ORPHA:829
Bloom Syndrome
Syndactyly, Prominent nose, Recurrent upper respiratory tract infections, Agenesis of maxillary l... OMIM:210900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom... ORPHA:26793
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Hydrocephalus, Optic... OMIM:612301
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Medial calcification of large arteries, Esophageal carcinoma, Functi... ORPHA:391487
Beckwith-Wiedemann Syndrome
Nephroblastoma, Diastasis recti, Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalci... OMIM:130650
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... OMIM:615474
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Larsen-Like Syndrome, Lethal Type
Neonatal death, Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst OMIM:617100
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Sensorineural hearing impairment, Coarctation o... OMIM:618748
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Multiple Endocrine Neoplasia Type 2
Joint laxity, Aganglionic megacolon, Elevated urinary catecholamine level, Elevated urinary norep... ORPHA:653
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect, Cholesteatoma OMIM:610978
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Mitral valve prolapse, Upslanted palpebral fissure, Recurrent otitis me... OMIM:620233
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Clubbing of toes, Right ventricular dilatation, Clubbing of fingers, Lef... ORPHA:99106
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Anteverted nares, Wide nasal ridge, Abnormality of the den... ORPHA:3455
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent otitis media OMIM:619774
Joubert Syndrome 5
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... OMIM:610188
Psoriasis 14, Pustular
Oligoarthritis, Geographic tongue, Nail dystrophy, Furrowed tongue OMIM:614204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Hydrocephalus, Flexion contracture, Optic atrophy, Lat... OMIM:613154
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger, Epiblepharon, Lateral ventricle dilatation, Short umb... OMIM:618367
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Aortic aneurysm, Myocardial sarcomeric disarray, Right atrial enlarge... OMIM:612422
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Left ventricular hypertrophy, Right ... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Interstitial cardiac fibrosis, Stroke, Hypertrophic cardiomyopathy, Righ... ORPHA:75249
Glutaric Acidemia I
Glutaric aciduria, Lateral ventricle dilatation, Ketonuria, Hydrocephalus OMIM:231670
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Orthostatic hypotension, Polyuria, Narrow nasal ridge, Pulmonary arteriovenous... OMIM:606721
Weill-Marchesani Syndrome 4
Brachydactyly OMIM:613195
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Bilateral Perisylvian Polymicrogyria
Choanal atresia, Micrognathia, Protruding tongue, Flexion contracture, Abnormality of masticatory... ORPHA:98889
Generalized Pustular Psoriasis
Arthritis, Renal insufficiency, Geographic tongue, Cheilitis ORPHA:247353
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory tract infect... ORPHA:293987
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Metachromatic Leukodystrophy, Late Infantile Form
Seizure, Abnormal social behavior ORPHA:309256
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Eisenmenger Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vertigo, Clubbing, Aort... ORPHA:97214
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Dental crowding, Abnormal palmar dermatoglyphics, Down-sloping ... OMIM:309800
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... ORPHA:980
Reactive Arthritis
Pericarditis, Recurrent urinary tract infections, Osteomyelitis, Joint stiffness, Cartilage destr... ORPHA:29207
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria OMIM:258900
Caroli Disease
Conjunctival icterus, Esophageal varix, Polycystic kidney dysplasia ORPHA:53035
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Stroke, Left atrial enlargement, Right atrial enlargement OMIM:617047
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Hearing... ORPHA:261265
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridg... OMIM:180500
Niemann-Pick Disease Type C
Generalized-onset seizure, Progressive neurologic deterioration, Focal-onset seizure, Seizure, De... ORPHA:646
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Pulmonic stenosis, Protruding tongue OMIM:614325
Von Hippel-Lindau Syndrome
Pancreatic cysts, Vertigo, Sensorineural hearing impairment, Renal cell carcinoma, Multiple renal... OMIM:193300
Hereditary Cryohydrocytosis With Reduced Stomatin
Short neck, Brachydactyly ORPHA:168577
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis, Proteinuria ORPHA:35858
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Recurrent urinary tract infections, Glossitis, Cheilitis ORPHA:90045
Combined Oxidative Phosphorylation Deficiency 3
Optic neuropathy, Patent ductus arteriosus, Dilated cardiomyopathy, Optic atrophy, Concentric hyp... OMIM:610505
Choreoacanthocytosis
Temporomandibular joint crepitus, Protruding tongue, Peroneal muscle atrophy, Dilated cardiomyopa... ORPHA:2388
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Carney Complex
Ovarian dermoid cyst, Neoplasm of the stomach, Esophageal neoplasm, Cardiac myxoma, Ductal carcin... ORPHA:1359
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... OMIM:619573
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Caroli Syndrome
Conjunctival icterus, Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
X-Linked Dystonia-Parkinsonism
Blepharospasm, Protruding tongue ORPHA:53351
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Right vent... ORPHA:99104
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior, Focal myoclonic seizure ORPHA:314647
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Atrial septal defect OMIM:617300
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Prolonged G2 phase of cell cycle OMIM:227646
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Plague
Chapped lip, Abnormality of the elbow, Enterocolitis, Endocarditis, Arthritis, Inflammation of th... ORPHA:707
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Pachyonychia Congenita 3
Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail dystrophy, Palmar hyperk... OMIM:615726
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo... ORPHA:268810
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Right atrial enlargement, Right ventricular hypertrophy, Abnormal vena cava morphol... ORPHA:1677
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve morphology... ORPHA:99103
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Inflammation of the large intestine, Osteomyelitis, Right atrial en... ORPHA:70591
Glucagonoma
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea ORPHA:97280

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prickle1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prickle1.

No publications found that use IMPC mice or data for Prickle1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Prickle1tm44555(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prickle1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prickle1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prickle1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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