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Gene: Bmp5 MGI:88181

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Gene Summary

Name:
bone morphogenetic protein 5
Synonyms:
N/A

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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.

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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.

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Bmp5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bmp5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cryptotia, Familial
Abnormality of the outer ear, Cryptotia OMIM:123557
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Ear Pits, Posterior Helical
Posterior helix pit OMIM:128710
Darwinian Tubercle Of Pinna
Darwin tubercle of helix OMIM:124300
Ear Without Helix
Abnormal helix morphology OMIM:128800
Question Mark Ears, Isolated
Hearing abnormality, Question mark ear OMIM:612798
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Cranial Nerves, Congenital Paresis Of
Abnormal pinna morphology OMIM:218100
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Coxoauricular Syndrome
Microtia, Hearing impairment OMIM:122780
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal rib morphology, Slender long bone, A... ORPHA:1506
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... OMIM:142900
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Three M Syndrome 3
Frontal bossing, Microcephaly, Hyperlordosis, Increased vertebral height, Short neck, Short thora... OMIM:614205
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abno... ORPHA:1856
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... ORPHA:2616
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... OMIM:236730
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Cervical Rib
Cervical ribs OMIM:117900
Acrocephalopolydactyly
Genu recurvatum, Short neck, Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly... ORPHA:221054
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Limited elbow movement, Abnormal metatarsal morphology, Abnorma... OMIM:127300
Microtia-Anotia
Anotia, Microtia OMIM:600674
Three M Syndrome 2
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Small for... OMIM:612921
Three M Syndrome 1
Joint dislocation, Mandibular prognathia, Scapular winging, Small for gestational age, Hypospadia... OMIM:273750
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Knee flexion contracture, Wrist flexion contracture, Dislocated radial head, Abnorm... OMIM:610758
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Recurrent fractures, Short neck, Limitation of joint mobility,... ORPHA:1486
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Abnormal rib morphology, Pectus carina... ORPHA:3268
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Earring Holes, Natural
Congenital earlobe sinuses OMIM:129000
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Sprengel anomaly, Vertebral segmentation defect, Aplasia/Hypoplasia of t... ORPHA:1988
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Micrognathia, P... OMIM:212780
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu v... ORPHA:3320
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multi... OMIM:259420
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Multiple small vertebral fractures, Slender long bone, Wormian bones, P... OMIM:619795
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Radial head s... ORPHA:2634
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of the ear, Cox... ORPHA:457395
Cenani-Lenz Syndrome
Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Synostosis ... ORPHA:3258
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Mental Retardation Syndrome, Mietens-Weber Type
Absent proximal radial epiphyses, Elbow flexion contracture, Forearm undergrowth, Dislocated radi... OMIM:249600
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... OMIM:276820
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Elbow dislocation, Metatarsus adductus,... ORPHA:2249
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... ORPHA:950
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi... OMIM:602471
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Ant... ORPHA:1703
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Anteverted nares, Micrognathia, Metaphyseal widening... ORPHA:73230
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, 2-3 toe... OMIM:600920
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Hepa... ORPHA:1597
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased body weight, Vesicoureter... OMIM:618265
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... ORPHA:1570
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Depressed nasal bridge, Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long bone,... ORPHA:2840
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Elbow dislocation,... OMIM:171480
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Short neck, Aplasia of ... ORPHA:2879
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Renal hypoplasia/aplasia, Hand olig... ORPHA:1788
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Underdeveloped nasal alae, Flexion contracture, Microtia, Macrocephaly OMIM:612138
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Short neck, Delayed epiphyseal ossification, Narrow chest, Dysplastic sacrum, Iliac c... OMIM:613320
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, Low-set,... ORPHA:958
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Micrognathia, Underdeveloped nasal alae, Conductive hearing impairment, Microcephaly, Wide nasal ... OMIM:248910
Craniodiaphyseal Dysplasia
Frontal bossing, Craniofacial hyperostosis, Abnormal rib morphology, Macrocephaly, Conductive hea... ORPHA:1513
Thoracolaryngopelvic Dysplasia
Laryngeal stenosis, Metaphyseal widening, Irregular chondrocostal junctions, Irregular vertebral ... OMIM:187760
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... ORPHA:2831
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Congenital hip dislocation, Renal... ORPHA:2970
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Parietal Foramina With Cleidocranial Dysplasia
Parietal foramina, Microtia, Short clavicles, Macrocephaly OMIM:168550
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... ORPHA:75508
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Sensorineural he... ORPHA:2790
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo... OMIM:612447
Atelosteogenesis, Type I
Laryngeal stenosis, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, ... OMIM:108720
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Depressed nasal bridge, Aplasia/H... ORPHA:2256
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Single transverse palmar crease, Increased vertebral height, Hepatomegaly, Lumbar hyperlordosis, ... OMIM:613385
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... ORPHA:2141
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Alagille Syndrome
Hypoplasia of the ulna, Failure to thrive, Hepatomegaly, Renal hypoplasia/aplasia, Micrognathia, ... ORPHA:52
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Frontal bos... ORPHA:93267
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... ORPHA:3266
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... ORPHA:93356
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Renal agenesis, Hypospadias, Craniosynostosis, Microgna... ORPHA:171839
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Proximal femoral me... OMIM:609324
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Micrognathia, Microtia, Low-set ears, Decreased body weight, C... ORPHA:357175
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Pectus carinatum,... ORPHA:1327
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fos... OMIM:224690
Coxoauricular Syndrome
Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, Microtia, Atr... ORPHA:1508
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal middle ear mor... ORPHA:79113
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Wide nasal bridge, ... ORPHA:2774
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal nasal morphology... ORPHA:2878
Shox-Related Short Stature
Short neck, Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und... ORPHA:314795
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Microcephaly, Pectus excavatum, Short neck, Cupped ear, Pec... OMIM:609654
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C... ORPHA:93328
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Abnormal rib morpholog... ORPHA:2145
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Micrognathia, Microtia, Low-set ears, Decreased body weight, C... OMIM:615162
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, J... ORPHA:40
Omodysplasia 2
Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ... OMIM:164745
Juberg-Hayward Syndrome
Wide nose, Toe syndactyly, Hypospadias, Microcephaly, Short thumb, Hypoplasia of the radius, Abno... ORPHA:2319
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
6Q16 Microdeletion Syndrome
Abnormal ear morphology, Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose, Mi... ORPHA:171829
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... OMIM:610915
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphalangism affecting th... ORPHA:628
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Posteriorly rotated ears, Micrognathia, Microcephaly, Depressed nasal ridge, Lo... ORPHA:1832
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill... OMIM:601812
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Anteverted nares, Slender long bone, Macrocep... ORPHA:1185
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Cryptorchidism, Patent ductus arteriosus, Aplasia of the... OMIM:100100
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, Micrognathia, Broad nasal tip, Microcephaly, 2-3 toe syndactyly, Small thenar emi... OMIM:239800
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... OMIM:268310
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior font... OMIM:619135
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Irregular capital femoral ep... OMIM:616716
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Lateral clavicle hook, Pa... OMIM:613804
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxill... OMIM:613805
Meier-Gorlin Syndrome 8
Microtia, Low-set ears OMIM:617564
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Frontal bossing, Arachnodactyly, Camptodact... ORPHA:2994
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalan... OMIM:277150
Diastrophic Dysplasia
Cervical kyphosis, Hypertrophic auricular cartilage, Hypoplastic cervical vertebrae, Lumbar hyper... OMIM:222600
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Retrognathia, Slen... ORPHA:561
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... OMIM:611717
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Macrocephaly, Thi... ORPHA:261295
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Microcephaly, Malar flattening, Short nose, Abnormality of the ou... ORPHA:217340
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... OMIM:244460
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Aplasia of the bladder, Narrow chest, Hypoplasia of the ulna, Split ... OMIM:200980
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Talipes eq... OMIM:617219
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Vertebral segmenta... OMIM:611209
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Microcephaly, Joint hype... ORPHA:1695
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Lateral c... ORPHA:1801
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... ORPHA:163654
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Micrognathia ORPHA:2015
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Cli... OMIM:201000
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Catifa Syndrome
Delayed eruption of teeth, Anteverted nares, Mild microcephaly, Microtia, Camptodactyly OMIM:618761
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Depressed nasal ridge, Nephrolithiasis, Abnormal fibula morphology, ... ORPHA:1837
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... OMIM:170390
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Posteriorly rotated ears, Thoracolumbar kyphoscoliosis, Proximal placement... OMIM:212066
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synost... OMIM:251230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Anteverted nares, Depressed nasal bridge,... OMIM:615398
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Beaded ribs, Short neck, Micrognathia, Large fleshy ears, Micropenis, Hypospadias, Anteverted nar... OMIM:616897
Isotretinoin Syndrome
Depressed nasal bridge, Micrognathia, Microtia, Biparietal narrowing, Abnormality of the outer ear ORPHA:2305
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ri... OMIM:300863
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Malan Overgrowth Syndrome
Depressed nasal bridge, Pectus excavatum, Slender long bone, Scoliosis, Macrocephaly ORPHA:420179
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short neck, Femoral bowing, Short metacarpal, Thoracolumbar ... OMIM:616723
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypospadias, Posteriorly rotated ears, Micrognathia, Depressed nasa... OMIM:618156
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Thickened helices, Joint stiffness, Broad skull, Short me... OMIM:608328
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal localizat... ORPHA:3429
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Choana... OMIM:263750
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Cryptorchidism, Micrognathia ORPHA:1918
Ulnar-Mammary Syndrome
Subglottic stenosis, Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpa... OMIM:181450
Maxillofacial Dysostosis
Abnormal pinna morphology OMIM:155000
Alazami Syndrome
Wide nose, Mild microcephaly, Slender long bone, Low-set ears, Scoliosis ORPHA:319671
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Melnick-Needles Syndrome
Delayed eruption of teeth, Bowing of the long bones, Delayed cranial suture closure, Hearing impa... ORPHA:2484
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibro... OMIM:208500
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Micropenis... OMIM:613803
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Broad skull, Brachycephaly, Spinal canal stenosis, Scolios... OMIM:277600
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Abnormal pinna morph... OMIM:184705
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Short neck, Bifid nasal tip, Vertebral ... OMIM:616854
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shape... OMIM:271665
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Relative macrocephaly, Metaphyseal dysplasia, Hypospadias, Posteriorly rotated ears, Short neck, ... OMIM:618336
Craniosynostosis-Mental Retardation-Clefting Syndrome
Renal dysplasia, Craniosynostosis, Microcephaly, Forearm undergrowth, Lower limb undergrowth, Con... OMIM:218650
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morp... OMIM:274000
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgu... ORPHA:166024
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Micrognathia, Narrow chest, Absent or minimally ossified v... ORPHA:1190
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Wide nose, Arachnodactyly, Thenar muscle atrophy, P... ORPHA:2463
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... ORPHA:1354
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1040
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Renal hypoplasia/aplasia, Micrognathia, Abnorm... ORPHA:1834
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short neck, Kyphosis, Short thorax, Genu ... ORPHA:2983
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m... OMIM:608940
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valg... OMIM:608154
Cloacal Exstrophy
Omphalocele, Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/apl... ORPHA:93929
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... OMIM:143095
Cerebellofaciodental Syndrome
Single transverse palmar crease, Tapered finger, Short neck, Microcephaly, Dental malocclusion, S... OMIM:616202
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of t... ORPHA:3082
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Low-set ears, Microcephaly ORPHA:46
Achard Syndrome
Joint laxity, Broad skull, Arachnodactyly, Brachycephaly OMIM:100700
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia OMIM:243440
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... ORPHA:2557
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Hearing impairment, Short neck, Choanal atresia, Puncta... ORPHA:1914
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose OMIM:155050
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Microcephaly, Wide nasal bridge, Protruding ear OMIM:618302
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Oculoauriculofrontonasal Syndrome
Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Micrognathia, Microcephaly, Microtia, Macr... ORPHA:398156
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, Anotia, Clinodactyly of... ORPHA:2554
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... OMIM:619797
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulder flexion contracture,... OMIM:620369
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Wide nose, Anteverted nares, Bulbous nose, Mesiodens, Macrocephaly ORPHA:314647
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... OMIM:268300
Spondyloepimetaphyseal Dysplasia, Shohat Type
Laryngeal stenosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal ... ORPHA:93352
Adams-Oliver Syndrome 4
Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, Aplasia of the middle ... OMIM:615297
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed... OMIM:618332
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Caudal Appendage-Deafness Syndrome
Cryptorchidism, Abnormal digit morphology, Caudal appendage ORPHA:1123
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abn... ORPHA:93351
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Diabetic Embryopathy
Ureteral duplication, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ... ORPHA:1926
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Hypospadias, Delayed cranial suture closure, Kyphoscoliosis, Micrognathia, Micro... OMIM:210730
Wilson-Turner Syndrome
Uplifted earlobe, Micrognathia, Tapered finger, Broad nasal tip, Small hand, Short foot, Truncal ... ORPHA:3459
Parenti-Mignot Neurodevelopmental Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia, Cupped ear, Mic... OMIM:619873
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Craniosynostosis, Absent thumb, Micr... ORPHA:96097
Campomelic Dysplasia
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Seckel Syndrome 7
Microcephaly, Abnormal carpal morphology, Hip dysplasia, Microtia, Lumbar scoliosis, Clinodactyly... OMIM:614851
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ... OMIM:609325
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Laryngeal stenosis, Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delaye... ORPHA:93360
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Renal hypoplasia/apl... ORPHA:3186
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... ORPHA:63446
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... ORPHA:2180
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... ORPHA:2631
Aase-Smith Syndrome
Abnormal pinna morphology, Camptodactyly of finger, Trismus, Aplasia/Hypoplasia of the radius, Ta... ORPHA:916
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... ORPHA:474
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Hypop... OMIM:614900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
Hand muscle weakness, Intrinsic hand muscle atrophy, Slender long bone, Hammertoe, Distal upper l... ORPHA:488333
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Spina bif... ORPHA:2437
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing imp... ORPHA:959
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Meier-Gorlin Syndrome 2
Abnormal pinna morphology, Microcephaly, Dolichocephaly, Patellar aplasia, Slender long bone, Mic... OMIM:613800
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Convex nasal ridge, Abn... ORPHA:666
Distal Deletion 9P
Low-set, posteriorly rotated ears, Short neck, Aplasia/Hypoplasia of the earlobes, Enlarged thora... ORPHA:1642
Fibrochondrogenesis 2
Frontal bossing, Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypopla... OMIM:614524
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Humeroradial Synostosis
Small earlobe, Microtia OMIM:236400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... OMIM:619431
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cryptorchidism OMIM:274205
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Single transverse palmar crease, Short neck, Tapered finger, Micrognathia, Micr... ORPHA:444072
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, Micropenis, Failur... OMIM:602361
Atelosteogenesis Type Ii
Laryngeal stenosis, Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short ... ORPHA:56304
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foo... OMIM:154400
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G... ORPHA:85198
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Urethral atresia, Abnor... OMIM:314390
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Proximal placement o... ORPHA:1488
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... ORPHA:65759
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Tetraploidy
Microcephaly, Micrognathia, Radial club hand, Biparietal narrowing, Hypoplasia of the ear cartila... ORPHA:3305
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Large for gestational age, Micrognathia, Microcephaly, ... OMIM:612731
Hallermann-Streiff Syndrome
Natal tooth, Small for gestational age, Prominent nasal bridge, Abnormality of the hand, Hyperlor... OMIM:234100
Sponastrime Dysplasia
Subglottic stenosis, Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, ... ORPHA:93357
Monosomy 5P
Microretrognathia, Low-set, posteriorly rotated ears, Recurrent fractures, Microcephaly, Wide nas... ORPHA:281
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Large for gestational age, Micrognat... ORPHA:314588
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Microcephaly, Hemivertebrae, Microtia, Scoliosis, Micropenis, Failure to thrive, ... ORPHA:370079
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Protrud... ORPHA:85279
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
3-Hydroxyisobutyric Aciduria
Microcephaly, Microtia, Micrognathia ORPHA:939
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal rib morphology, Joint hyperflexibi... ORPHA:2475
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Posteriorly rotated ears, Tapered finger, Microcephaly, Small hand, Short foot, Plagi... OMIM:618089
Macdermot-Winter Syndrome
Posteriorly rotated ears, Camptodactyly of finger, Microcephaly, Macrotia, Hydronephrosis OMIM:247990
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Lumb... OMIM:602875
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Kyphosi... ORPHA:476126
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Microcephaly, Pectus excavatum, Hyperlordosis, Kyphosis, Short neck... ORPHA:2522
Alagille Syndrome 1
Long nose, Multiple small medullary renal cysts, Hemivertebrae, Vesicoureteral reflux, Hypoplasia... OMIM:118450
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Renal agenesis, Unilateral cryptorchidism OMIM:219050
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose, Flared nostril... OMIM:614756
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen, Abnormal tibia morphology, Abnormality of the ureter, Hypospadias ORPHA:2487
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Laryngeal stenosis, Enlarged interphalangeal joints, Short metacarpal, Genu recurv... OMIM:151200
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Posteriorly rotated ears, Depressed nasal bridge, Long nose, Pectus excavatum, Slender long bone,... OMIM:618590
Zechi-Ceide Syndrome
Sandal gap, Short metatarsal, Abnormal earlobe morphology, Microtia, Low-set ears, Abnormal helix... ORPHA:217017
Hypertelorism-Microtia-Facial Clefting Syndrome
Microcephaly, Bifid nasal tip, Microtia, Atresia of the external auditory canal, Bifid nose, Cond... ORPHA:2213
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi... ORPHA:505237
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose OMIM:125700
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Prominent nose, Cl... OMIM:210600
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... ORPHA:1352
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Microcephaly, Micrognathia, Protruding ear, Short nose ORPHA:1495
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Anteverted nares, Abnormal dental enamel morphol... ORPHA:582
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... OMIM:200600
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot... OMIM:615989
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Kagami-Ogata Syndrome
Hepatomegaly, Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valg... OMIM:608149
Phaver Syndrome
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Short t... ORPHA:2876
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... ORPHA:794
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Hypospadias, Thoracolumbar scoliosis, Overlapping toe, Metatarsus adductus, Short... ORPHA:436003
8Q22.1 Microdeletion Syndrome
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna morphology, Hypoplas... ORPHA:178303
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Wide nose, Anteverted nares, Craniosynostosis, Microtia, Low-set ears, Macrocephaly, Joint hyperm... OMIM:619056
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Dense metaphyseal bands, Small for gestational age, Sensorineural hearing impairment, Slender lon... ORPHA:50811
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Anteverted nares, Wide nasal bridge, Deep palmar c... OMIM:311900
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Posteriorly rotated ears, Anteverted nares, Microcephaly, Delayed eruption of permanent teeth, Lo... OMIM:618506
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... ORPHA:168555
Bent Bone Dysplasia Syndrome 2
Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatomegaly, Depres... OMIM:620076
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Prominent nose, Short metatarsal, Short metacarpal, Rhizomelia, Cone-shape... OMIM:614813
Pseudoachondroplasia
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... OMIM:177170
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Posteriorly rotated ears, Missing ribs, Abnormal rib morphology, Hemivertebrae, A... ORPHA:2759
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Microcephalic Primordial Dwarfism, Dauber Type
Subglottic stenosis, Prominent nose, Microcephaly, Abnormal carpal morphology, Obesity, Madelung ... ORPHA:319675
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Depressed nasal bridge, Craniosynostosis, Low-set ears, Macrocephaly, Short nose OMIM:614732
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Inguinal hernia, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial ha... OMIM:175700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Short neck, Micrognathia, Macrotia, Obesity, Wide nasal bridge, Hypoplasia of tee... OMIM:620250
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, Short nasal sept... OMIM:302950
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Prominent superficial veins, Atypical scarring of skin, Periodontitis, Umbilical... OMIM:617174
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit... ORPHA:2378
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Short nec... OMIM:108721
W Syndrome
Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Metatarsus adduct... ORPHA:2804
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Micromelia, Low-set ears, Hydronephrosis ORPHA:85173
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnormality, Abnor... ORPHA:2021
Mosaic Trisomy 8
Short neck, Micrognathia, Protruding ear, Vertebral segmentation defect, Narrow chest, Clinodacty... ORPHA:96061
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hy... OMIM:615542
Recombinant Chromosome 8 Syndrome
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus excavatu... OMIM:179613
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Macrotia, Depressed nasal bridge, Progressive microcephaly ORPHA:438178
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Cupped ear, ... OMIM:616367
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation, Abnormality of the ... ORPHA:1705
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Lujan-Fryns Syndrome
Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Protrud... ORPHA:776
Frontometaphyseal Dysplasia
Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap... ORPHA:1826
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small scrotum, Hypospadias, Cryptorchidism, P... OMIM:607143
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Posteriorly rotated ears, Rocker bottom foot, ... ORPHA:163979
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Protru... OMIM:156200
Vater/Vacterl Association
Laryngeal stenosis, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, Abnorm... OMIM:192350
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Abno... ORPHA:1035
Hemifacial Microsomia With Radial Defects
Microtia, Atresia of the external auditory canal, Triphalangeal thumb, Conductive hearing impairm... OMIM:141400
Bowen-Conradi Syndrome
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Cryptorchidism, Abnormal lung lobation... ORPHA:1270
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v... OMIM:602271
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Bilateral single transverse palmar creases, Camptodactyly of finger, Posteri... ORPHA:2083
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Abnorm... OMIM:146510
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis... OMIM:184260
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Depressed nasal bridge, Craniosynostosis, Micrognathia, Pectus excavatum, Obesity, Renal cyst, Hy... ORPHA:369837
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Mi... ORPHA:245
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Microcephaly, Dental malocclusion, Wide nasal bridge, Pectus carinatum, Ab... ORPHA:3079
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Joubert Syndrome 37
Hepatomegaly, Prominent metopic ridge, Lumbar hyperlordosis, Posteriorly rotated ears, Anteverted... OMIM:619185
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl... OMIM:156510
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ... OMIM:236700
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Microtia, Short clavicles, Fi... OMIM:212112
Van Maldergem Syndrome 1
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, Na... OMIM:601390
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... ORPHA:3232
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Conductive hearing i... OMIM:218600
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Recurrent urinary tract infecti... ORPHA:2438
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Microcephaly ORPHA:2435
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Fibular hypoplas... OMIM:164900
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes planus, Tapered finger, Cryptorchidism, Short foot, Pes cavus OMIM:309585
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Osteomyelitis, Aplasia of... OMIM:619218
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Pa... OMIM:618845
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Abnormal pelvic girdle ... ORPHA:2370
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Prominent nasal bridge, Broad nasal tip, Micrognathia, Microcephaly, Low-set ears, ... OMIM:613544
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Pectus... OMIM:259440
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Progressive microcephaly, Protruding ear OMIM:618737
Short Syndrome
Joint laxity, Enlarged epiphyses, Frontal bossing, Sensorineural hearing impairment, Slender long... OMIM:269880
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Depressed nasal bridge, Micromelia, Renal hypoplasi... ORPHA:3015
Trisomy 1Q
Microretrognathia, Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cam... ORPHA:261344
Van Maldergem Syndrome 2
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, C... OMIM:615546
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Postaxial polydactyly, Mesoaxial hand polydacty... OMIM:615996
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Sensorineural hearing impairment, Flexion contracture, Short nose OMIM:618379
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Prominent metopic ridge, Anteverted nares, Depr... ORPHA:363659
Congenital Myopathy 19
Posteriorly rotated ears, Micrognathia, Renal atrophy, Depressed nasal ridge, Bell-shaped thorax,... OMIM:618578
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Aplasia/Hypoplasia of the phalanges of the hallux, ... ORPHA:337
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Latera... OMIM:617895
Achondrogenesis
Anteverted nares, Abnormal enchondral ossification, Micrognathia, Abnormality of bone mineral den... ORPHA:932
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi... OMIM:613390
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
19P13.3 Microduplication Syndrome
Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Prominent nose, Long fingers, Underdevelo... ORPHA:447980
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of... ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Wide nose, Depressed nasal bridge, Short neck, Microcephaly, Bulbous nose, Flared metaphysis, Adv... OMIM:610442
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Sin... OMIM:300707
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Short neck, Brachycephaly, Pectus carinatum, Shoulder dislocation, Narrow chest, Prom... OMIM:245600
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Arachnodactyly, Camptodactyly of finger, Micrognathia, Aplasia/... ORPHA:2604
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Ectopic kidney, Short neck, Micrognathia, Abnormal form of the v... ORPHA:233
Perlman Syndrome
Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Low-set ears, Macroc... ORPHA:2849
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia... ORPHA:195
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Overfolded helix, Low-set ears, Clinodactyly, Hydronephrosis, Hear... ORPHA:251046
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Turricephaly, Abnormal morpholo... ORPHA:2167
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling, Short 3rd metacarpal,... OMIM:118651
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, Conductive hearing impairment, Clinodactyly of the 5th finger,... OMIM:300373
Ulbright-Hodes Syndrome
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, S... ORPHA:3404
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Split hand, Patellar aplasia, Hand monodactyly, Split fo... OMIM:119100
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... ORPHA:1149
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Macrotia ORPHA:93945
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Abnormality of the liver, Abnormality of the uterus, Tri... ORPHA:84
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Failure to thrive in infancy, Posteriorly rotated ears, Anteverted ... OMIM:618829
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Macrocephaly, Malar flattening, Short nose, Retrognathia OMIM:613670
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... ORPHA:1529
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Asplenia, Narrow chest, 2-5 toe syndactyly, 2-4 finger syndactyly... OMIM:617746
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Osteolysis, Broad nasal tip ORPHA:2776
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal in... ORPHA:2311
Thanatophoric Dysplasia, Type Ii
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia... OMIM:187601
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, El... ORPHA:85285
Bazex-Dupré-Christol Syndrome
Abnormal clavicle morphology, Macrotia, Abnormal finger morphology, Hypoplasia of the ear cartilage ORPHA:113
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Mandibular prognathia, Metaphyseal widening, Pectus carinatum, Knee dislocation, Clinodactyly of ... OMIM:620083
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Microcephaly, Pectus excavatum, Abnormal 5th finger morphology,... ORPHA:1439
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Hydroureter, Hyp... ORPHA:568
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Frontal bossing, Abnormal pinna morphology, Postaxial polydactyly, Short neck, Lateral clavicle h... OMIM:617925
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Wormian bones, Beaded ribs, Tib... OMIM:166210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Microcephaly, Joint contracture, Low-set ears, Short nose, Macrotia OMIM:615419
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Grant Syndrome
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Abnormal rib m... ORPHA:2097
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... ORPHA:380
X-Linked Intellectual Disability, Van Esch Type
Microcephaly, Retrognathia, Microtia, Clinodactyly of the 5th finger, Coronal craniosynostosis, F... ORPHA:163976
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... OMIM:114290
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... OMIM:616229
Cog1-Cdg
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, ... ORPHA:263508
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Caudal Duplication
Omphalocele, Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/apla... ORPHA:1756
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, ... OMIM:618011
Muscular Hypertonia, Lethal
Umbilical hernia, Pneumonia OMIM:254120
Ohdo Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplas... OMIM:249620
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patell... OMIM:617604
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Hydroureter, Abnormal dental enamel morphology, Ext... ORPHA:1458
Oeis Complex
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Ambiguous genitalia, male, M... OMIM:258040
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Shor... ORPHA:1147
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Depressed nasal bridge, Missing ribs, Micrognathia, Hemivertebrae, Low-s... OMIM:220210
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Sandal gap, Microcephaly, Pectus excavatum, 3-4 finger cutaneous syndactyly, Ver... OMIM:612530
Zaki Syndrome
Sacral dimple, Toe syndactyly, Renal agenesis, Anteverted nares, Wide nose, Micrognathia, Microce... OMIM:619648
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Depressed nasal bridge, M... OMIM:300895
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Osteoporosis, Microtia, Camptodactyly, Hearing impairment OMIM:616006
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... OMIM:610797
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Hip dislocation, Mesomelia, Short tibia, Dislocated r... OMIM:605274
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Splenomegal... ORPHA:3035
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Micrognathia, Abnorma... ORPHA:971
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Microcephaly ORPHA:93950
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Micrognathia, Microcephaly, Overfolded helix, Microtia, Atresi... OMIM:610536
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Calvarial skull defect, Abnormal pelvis bo... ORPHA:1426
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... ORPHA:370010
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Microcephaly, Hyperlordosis, Short neck, Short thorax, Abnormal rib morphology, Abn... ORPHA:1797
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Tetralog... ORPHA:1166
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Microgna... OMIM:600325
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Short femur, Hyperparathyroidism, Metaphyseal spurs, Unilateral renal agenesis, ... OMIM:618188
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint, Stroke-like ... OMIM:222300
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pinna morphology, Kyphoscoliosis, Short neck, Postaxial polydactyly, Abnorma... OMIM:302960
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Schilbach-Rott Syndrome
Posteriorly rotated ears, Prominent nose, Long nose, Micrognathia, Microcephaly, Microtia OMIM:164220
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Dental malocclusion, Microtia, Short mandibular rami OMIM:141300
Noonan Syndrome 9
Cryptorchidism, Hydroureter, Coarctation of aorta OMIM:616559
Imagawa-Matsumoto Syndrome
Cryptorchidism, Large hands, Camptodactyly, Umbilical hernia, Clinodactyly, Long foot OMIM:618786
Grant Syndrome
Wormian bones, Down-sloping shoulders, Tibial bowing, Micrognathia OMIM:138930
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Abnormal pinna morphology, Microcephaly, Hyperlordosis, Limitation of ... ORPHA:3068
Radial-Renal Syndrome
Unilateral renal agenesis, Absent thumb, Absent radius, External ear malformation, Ectopic kidney OMIM:179280
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Abnormal pinna morphology, Anteverted nares, Posteriorly rotated ears, Hypopla... ORPHA:228396
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Micropenis, Hepatomegaly, Hypospadias, Postaxial foot polydactyly, Deep pa... OMIM:301056
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Abnormality of the ureter, ... ORPHA:1770
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... OMIM:602200
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nos... ORPHA:3301
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Osteoporosis, Finger clinodactyly, Bilateral talipes equinovarus, Supernumerary ribs,... ORPHA:2958
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Bell-shaped thorax, Low-set ears, Dolichocephaly, Scol... ORPHA:178148
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... OMIM:156550
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal... OMIM:619638
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Johnson Neuroectodermal Syndrome
Choanal atresia, Microcephaly, Carious teeth, Bulbous nose, Anosmia, Protruding ear, Microtia, At... ORPHA:2316
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Anauxetic Dysplasia 3
Short metacarpal, Depressed nasal bridge, Thoracolumbar kyphoscoliosis, Metaphyseal cupping, Hip ... OMIM:618853
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Vertebral segmentation defect, Vesicoureteral reflux, Mic... OMIM:617063
Fanconi Anemia, Complementation Group B
Renal agenesis, Short neck, Absent thumb, Overfolded helix, Bilateral radial aplasia, Low-set ear... OMIM:300514
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Anteverted nares, Depressed nasal bridge, Increased interve... OMIM:618961
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Avascular necrosis of the capital femoral epi... OMIM:132400
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero... OMIM:134780
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Single transverse palmar crease, Short neck, Large for gestational age, Mi... ORPHA:96334
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Sensorineural hearing impairment, Abnormal rib morphology, ... ORPHA:3378
Au-Kline Syndrome
Vertebral segmentation defect, Clinodactyly of the 5th finger, Vesicoureteral reflux, Prominent m... OMIM:616580
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Tarsal synostosis, ... ORPHA:2633
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Boomerang Dysplasia
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... OMIM:112310
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Absent toe, Short metatarsal, Fibular hypopl... OMIM:228900
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:300946
Congenital Disorder Of Deglycosylation 2
Sacral dimple, Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Micrognathia, Microtia, ... OMIM:619775
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... ORPHA:2872
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Micropenis, Hypospadias, Anteverted... OMIM:301040
Kury-Isidor Syndrome
Finger syndactyly, Sacral dimple, Anteverted nares, Rocker bottom foot, Proximal placement of thu... OMIM:619762
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridge, Short neck, Abnormali... ORPHA:3098
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Thick nasal alae, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegal... ORPHA:583
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Coccidioidomycosis
Osteomyelitis, Broad skull, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of ... ORPHA:228123
Thoracomelic Dysplasia
Hyperlordosis, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyp... ORPHA:1803
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Anteverted nares,... OMIM:227330
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... OMIM:212720
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Depressed nasal bridge, Postaxial polydactyly, Splenomegaly, Postaxial hand polydac... OMIM:617088
Thanatophoric Dysplasia, Type I
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Severe platyspondyly, Small abnormal... OMIM:187600
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Femoral bowing,... OMIM:616462
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Protruding ... ORPHA:93315
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Abnormal pinna morphology, Depress... ORPHA:35173
Orofaciodigital Syndrome Xv
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... OMIM:617127
Wrinkly Skin Syndrome
Congenital hip dislocation, Coxa vara, Microretrognathia, Scapular winging, Wide anterior fontane... OMIM:278250
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Posteriorly rotated ears, Rocker bottom foot, Hearing impai... OMIM:601353
Achondroplasia
Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Choanal stenosis, Conductive he... OMIM:100800
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Microcephaly, Overfolded helix, Abnormal helix morphology, ... ORPHA:1913
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Lateral ... ORPHA:3144
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Obesity, Nephrocalcinosis, Bell-shaped thorax, Shor... OMIM:615633
Seckel Syndrome 10
Microretrognathia, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentrat... OMIM:617253
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, Camp... OMIM:208150
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Decreased palmar creases, Eczema, Micrognathia, Cryptorchidism, Abnormal foot mo... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Broad nasal t... OMIM:620157
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Narrow chest, Small earlobe, Genu varum, Long toe, Hypospadias, Antever... OMIM:264090
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... ORPHA:373
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic frontal sinuses, Wide na... OMIM:136760
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Joint laxity, Midface retrusion, Relative macrocephaly, Posteriorly rotated ... OMIM:612813
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Spondylocarpotarsal Synostosis Syndrome
Short neck, Renal cyst, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive... ORPHA:1225
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Abnormal clavicle morphology, Camptodacty... ORPHA:3138
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,... OMIM:139210
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Cubitus valgus, Carious teeth, ... OMIM:269300
Koolen-De Vries Syndrome
Ureteral duplication, Protruding ear, Vertebral segmentation defect, Vesicoureteral reflux, Thick... ORPHA:96169
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Abnormal intervertebra... ORPHA:887
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Missing ribs, Short ... ORPHA:7
Auriculoosteodysplasia
Attached earlobe, Abnormal clavicle morphology, Elbow dislocation, Aplasia/Hypoplasia of the earl... ORPHA:114
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Posteriorly rotated ears, Kyphoscoliosis, Depressed nasal bridge, Metatarsus addu... OMIM:612513
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis, Umbilical hernia ORPHA:2241
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabul... OMIM:610682
Cleidocranial Dysplasia
Mandibular prognathia, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodac... ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Subglottic stenosis, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, L... OMIM:271510
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Small for gestational age, Ectopic kidney, Absent t... OMIM:227645
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Inguinal hernia, Single transverse palmar crease, O... OMIM:616145
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Capita... ORPHA:289
Toluene Embryopathy
Micrognathia, Microcephaly, Protruding ear, Hypoplasia of the zygomatic bone, Biparietal narrowin... ORPHA:1920
Fg Syndrome Type 1
Finger syndactyly, Sacral dimple, Broad toe, Hypospadias, Limited elbow extension and supination,... ORPHA:93932
Cole-Carpenter Syndrome
Frontal bossing, Crumpled long bones, Bowing of the long bones, Turricephaly, Recurrent fractures... ORPHA:2050
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge, Micrognathia ORPHA:261120
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology, Low-set ears, Chronic otitis... ORPHA:276422
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose ORPHA:2835
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena... OMIM:301014
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... OMIM:253010
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Roifman-Chitayat Syndrome
Short metacarpal, Pneumonia, Ectopic kidney, Short metatarsal, Cone-shaped epiphysis, Arthritis, ... OMIM:613328
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Prominent nose, Delayed ep... OMIM:210710
Congenital Neuronal Ceroid Lipofuscinosis
Low-set ears, Split hand, Aplasia/Hypoplasia of the external ear, Microcephaly ORPHA:168486
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Weiss-Kruszka Syndrome
Hearing impairment, Proximal placement of thumb, Cupped ear, Protruding ear, Microtia, Low-set ea... OMIM:618619
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... ORPHA:175
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Small earlobe, Low-set, posteriorly rotated ears, ... ORPHA:2886
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Craniosynostosis, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Sc... ORPHA:531151
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c... OMIM:300555
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... ORPHA:3003
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Hearing impairment, Wide distal femoral metaph... OMIM:614856
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Microcephaly, Low-set ears, Conductive hearing impairment, Short nose OMIM:616910
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Depressed nasal bridge, Unilateral renal agenesis, Microcephaly, Ch... OMIM:617661
Polydactyly-Myopia Syndrome
Cryptorchidism, Postaxial hand polydactyly, Femoral hernia, Inguinal hernia ORPHA:2917
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... ORPHA:2741
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Pulmonary cyst, Micrognathia, Umbilical hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Recon Progeroid Syndrome
Joint laxity, Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal b... OMIM:620370
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abnormal penis... ORPHA:2461
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Short tubular bones of the hand, Coxa valga, Micrognathia, Wide anterio... ORPHA:85184
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Umbilical hernia, Tetraamelia, Cryptorchidism OMIM:273390
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Microcephaly, Abnormal rib mo... ORPHA:2772
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Inguinal hernia, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal stippli... OMIM:222765
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Sh... ORPHA:93298
Trisomy 17P
Hypoplasia of penis, Urethral valve, Prominent metopic ridge, Wide nose, Short neck, Tapered fing... ORPHA:261290
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Ventral hernia, Inguinal hernia, Prominent superficial veins, Pes planus, Carotid ... OMIM:618000
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor... ORPHA:314585
15q26 overgrowth syndrome
Mandibular prognathia, Short neck, Micrognathia, Prominent nose, Abnormal finger morphology, Vesi... DECIPHER:81
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Chronic otitis medi... ORPHA:280
Distal Deletion 12Q
Single transverse palmar crease, Ectopic kidney, Short neck, Micrognathia, Biliary atresia, Aplas... ORPHA:96149
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overhanging nasal tip, Overlapping toe, Posteriorly rotated ears, Unilateral renal agenesis, Bulb... OMIM:618494
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Ectopic kidney, Microcephaly, Hypoplasia of the radius, Aplasia of t... OMIM:617247
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Microcephaly, Flexion contracture, Osteoporosis, Large earlobe, Secondar... OMIM:615851
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Microtia OMIM:619817
Keipert Syndrome
Depressed nasal bridge, Prominent nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing ... ORPHA:2662
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Ky... ORPHA:263463
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Flexion con... ORPHA:391372
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... ORPHA:420794
Aarskog-Scott Syndrome
Finger syndactyly, Inguinal hernia, Pes planus, Genu recurvatum, Single transverse palmar crease,... ORPHA:915
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Short toe, Dentinogenesis imperfecta, Sensorineural hearing impairment, O... OMIM:619269
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Abnormali... ORPHA:2549
Bartsocas-Papas Syndrome 1
Ectopic kidney, Short neck, Hypoplasia of the maxilla, Micrognathia, Hypoplastic iliac wing, Pter... OMIM:263650
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Asplenia, Hemivertebrae, Finger clinod... ORPHA:99776
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... OMIM:311300
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... OMIM:173800
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Microcephaly, Large earlobe, Low-set ears, Short nose, ... OMIM:617752
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Increased head circumference, Barrel... ORPHA:94068
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetrapho... OMIM:215140
Lowry-Maclean Syndrome
Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,... ORPHA:2409
Monosomy 9P
Proximal placement of thumb, Short neck, Micrognathia, Anotia, Bilateral single transverse palmar... ORPHA:261112
Achondrogenesis Type 1A
Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Micrognathia, Macrocepha... ORPHA:93299
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... ORPHA:1001
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cy... OMIM:236500
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Anteverted nares, Prominent nasal bridge, Tapered finger, Microcephaly, Wide na... OMIM:616977
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Eczema, Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Short 5th fin... ORPHA:500159
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ... ORPHA:93346
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Mic... OMIM:201170
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Abnormality of the temporomandibular joint, Abnormal pinna mor... ORPHA:137888
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Recurrent upper respiratory tract infections, Sm... ORPHA:284180
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o... ORPHA:83
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia OMIM:620137
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Kagami-Ogata Syndrome
Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, Large for gestational age, ... ORPHA:254519
2P15P16.1 Microdeletion Syndrome
Protruding ear, Enlarged thorax, Bilateral single transverse palmar creases, Multicystic kidney d... ORPHA:261349
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Multiple joint dislocation, Anterior atlanto-occipital disloc... ORPHA:536467
Osteogenesis Imperfecta, Type X
Relative macrocephaly, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the lon... OMIM:613848
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose, Macrocephaly ORPHA:2429
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Bowing of the long bon... ORPHA:1318
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Absent radius, Micrognat... OMIM:614083
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Cupped ear, Horseshoe kidney, Low-set ears, Ca... OMIM:614846
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Fusion of middle ear ossicles, Microtia, Hypopl... OMIM:613717
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, P... OMIM:615982
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Wide nose, Prominent na... ORPHA:85201
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Cranioectodermal Dysplasia 1
Single transverse palmar crease, Tubulointerstitial nephritis, Hepatic fibrosis, Hepatomegaly, Rh... OMIM:218330
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Conductive hearing impairment, Abnormal renal morphology, ... OMIM:609053
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tapered finger, Cryptorchidism, Hypogonadism, Micropenis ORPHA:85274
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A... ORPHA:1860
Paganini-Miozzo Syndrome
Microtia, Posteriorly rotated ears, Low-set ears OMIM:301025
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Pectus excavatum, Hemivertebrae, ... OMIM:104350
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Pedal edema, Umbilical hernia, ... ORPHA:87876
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Truncus arteriosus, Absent thumb, Micrognathia, Short thumb, C... OMIM:617516
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Pulmonary artery at... OMIM:601186
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Low-set, posteriorly rot... ORPHA:1307
Fanconi Anemia, Complementation Group F
Sacral dimple, Absent thumb, Microcephaly, Short thumb, Conductive hearing impairment, Hypoplasia... OMIM:603467
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose, Uplifted earlobe, Joint hypermobility OMIM:300143
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... ORPHA:1248
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Craniosynostosis, Abnormal rib morphology... ORPHA:436
Carey-Fineman-Ziter Syndrome
Laryngeal stenosis, Anteverted nares, Micrognathia, Microcephaly, Aplasia of the pectoralis major... ORPHA:1358
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Talipes, Cryptorchidism, Cleft palate, High palate, C... ORPHA:376
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Short humerus, Recurrent respiratory infections, Short femur, Hypo... ORPHA:17
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Craniofacioskeletal Syndrome
Barrel-shaped chest, Absent gallbladder, Hypospadias, Posteriorly rotated ears, Choanal atresia, ... OMIM:300712
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Metatarsus adductu... ORPHA:584
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... OMIM:600081
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Decreased palmar creases, Functional abnormality of the bladder, Protruding ea... ORPHA:2953
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlarg... OMIM:241530
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Large earlobe, Short nose, Macrotia, Joint hypermobility OMIM:617991
Peho-Like Syndrome
Short nose, Retrognathia, Progressive microcephaly OMIM:617507
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Abnormality of the mall... ORPHA:949
Trisomy 20P
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Vertebral segmen... ORPHA:261318
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... OMIM:600002
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Abnormal pelvic ... OMIM:144750
Desmosterolosis
Relative macrocephaly, Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micr... OMIM:602398
Renpenning Syndrome
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Sensorineural hearing impairment, M... ORPHA:3242
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hypertrophy of the urinary bladder, Recurrent aspiration pneumonia, Microretrognathia, Proportion... ORPHA:280633
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose, Wide nasal bridge, Low-se... OMIM:613604
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Cryptorc... ORPHA:3027
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge, Macrocephaly OMIM:300676
Al-Raqad Syndrome
Joint laxity, Short nose, Low-set ears, Microcephaly OMIM:616459
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Inguinal hernia, Nephropathy, Nephrolithiasis, Hematuria, Umbilical hernia ORPHA:2196
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Camptodactyly of finger, Tapered finger, Microcephaly, Abnormal thorax morpholog... ORPHA:1236
Robinow Syndrome
Micrognathia, Hemivertebrae, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Mult... ORPHA:97360
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Eczema, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdo... ORPHA:3055
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Microcephaly, Micrognathia ORPHA:2598
8P23.1 Duplication Syndrome
Wide nose, Toe syndactyly, Hydronephrosis, Hearing impairment ORPHA:251076
Panner Disease
Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar... ORPHA:97336
Microcephalic Primordial Dwarfism, Toriello Type
Microcephaly, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Prominent nasal bridge, Short neck, Micrognathia, Pectus excavatum, Bulbou... ORPHA:247262
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Suleiman-El-Hattab Syndrome
Microretrognathia, Single transverse palmar crease, Hearing impairment, Microcephaly, Overfolded ... OMIM:618950
Koolen-De Vries Syndrome
Anteverted ears, Prominent fingertip pads, Vesicoureteral reflux, Vertebral fusion, Prominent met... OMIM:610443
Penile Agenesis
Urethral atresia, male, Cloacal abnormality, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bila... ORPHA:49
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Anteverted nares, Short neck, Micrognathia, Long fingers, Macrotia, Pe... ORPHA:96092
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Broad nasal tip, Microcephaly, Large fleshy ears, Malar flat... OMIM:602342
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Abnormal pinna morphology, Camptodactyly OMIM:246560
17Q24.2 Microdeletion Syndrome
Otosclerosis, Failure to thrive in infancy, Short neck, Micrognathia, Upper limb undergrowth, Pro... ORPHA:529962
Autosomal Recessive Amelia
Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the lungs... ORPHA:1027
Turnpenny-Fry Syndrome
Mandibular prognathia, Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow ch... OMIM:618371
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C... OMIM:255800
Occipital Horn Syndrome
Short humerus, Persistent open anterior fontanelle, Convex nasal ridge, Pelvic bone exostoses, Ur... OMIM:304150
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Bilat... OMIM:617802
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ulna, Carious... ORPHA:93
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, Microtia, Recurrent ... OMIM:602562
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Rhizomelia, Failure to thrive in infancy, Craniosynostosis, Microgn... ORPHA:2645
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Renal agenesis, Renal hypoplasia/aplasia, Microgna... ORPHA:3412
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Small hand, Short foot, Hypogonadism, Decreased testicular size ORPHA:261483
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, C... ORPHA:1507
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Protruding ear, Anteverted nares, Depresse... OMIM:613458
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Absent gallbladder, Lumbar hyperlordosi... ORPHA:500150
Distal Xq28 Microduplication Syndrome
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Microcephaly, Recurrent upper respiratory ... ORPHA:293939
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Prominent nose, Lo... ORPHA:2636
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Missing ribs, Micromelia, ... OMIM:617866
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Thin clavicles, ... ORPHA:93324
Microcephaly 13, Primary, Autosomal Recessive
Subglottic stenosis, Small for gestational age, Micrognathia, Metaphyseal sclerosis, Prominent no... OMIM:616051
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... OMIM:179270
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Vesicoureteral r... OMIM:235510
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Joint hyperflexibili... ORPHA:90653
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Nephrolithiasis, Derma... OMIM:619698
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... OMIM:264700
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Aymé-Gripp Syndrome
Prominent metopic ridge, Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered finger, Poste... ORPHA:1272
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Micrognathia, Asplenia, Abnormal lung lobation, Hypospadias, Patent ductus arteriosus, Pulmonary ... OMIM:265380
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Microcephaly, Wide nasal bridge, Short columella, Hypop... OMIM:613603
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Talipes equinovarus, Arthrogryposis ... ORPHA:250994
Teebi-Shaltout Syndrome
Syndactyly, Ureteral stenosis, Ulnar deviation of the hand, Rocker bottom foot, Single transverse... OMIM:272950
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Single transverse palmar crease, Pectus carinatum, Male urethral meatus st... ORPHA:464738
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Raine Syndrome
Mandibular prognathia, Micromelia, Short neck, Micrognathia, Protruding ear, Choanal stenosis, Lo... OMIM:259775
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... OMIM:277440
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Abnormal pinna morphology, Microcephaly, Pectus excavatum, Kyphosis, Plagiocephaly, Cervical ribs... ORPHA:77300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Hyperextensibility of the finger joints, Joint laxity, Prominent nasal bridg... OMIM:309520
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia ORPHA:1373
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... ORPHA:79345
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Posteriorly rotated ear... ORPHA:93329
Hennekam-Beemer Syndrome
Wide nose, Camptodactyly of finger, Micrognathia, Long nose, Conductive hearing impairment, Micro... ORPHA:2135
Galloway-Mowat Syndrome
Abnormal intervertebral disk morphology, Proteinuria, Camptodactyly of finger, Micrognathia, Micr... ORPHA:2065
Mycophenolate Mofetil Embryopathy
Micrognathia, Ectopic kidney, Bifid thoracic vertebrae, Anotia, Microtia, Foot polydactyly, Atres... ORPHA:268249
Opitz-Kaveggia Syndrome
Single transverse palmar crease, Short neck, Micrognathia, Prominent nose, Prominent fingertip pa... OMIM:305450
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... ORPHA:64755
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Clinodactyly of the 5th finger, Umbilical hernia, Patent ductus arteriosus, Micrognathia ORPHA:1516
Arthrogryposis, Distal, Type 1C
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of finger, Crypt... OMIM:619110
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Single transverse palmar crease, Uplifted earlobe, Anteverted nares, Microcephaly, K... OMIM:616449
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Small for gestational age, Posteriorly rotated ears, Anteverted na... OMIM:616835
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Hydroureter, Single transverse palmar crease, Proximal placement of thumb, Limite... OMIM:610759
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Mast Cell Sarcoma
Hypoplasia of the ear cartilage ORPHA:66661
Distal Duplication 6P
Sacral dimple, Prominent nasal bridge, Short neck, Micrognathia, Aplasia/Hypoplasia of the earlob... ORPHA:1745
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Micrognathia, Wide nasal bridge, Femoral bowing, Thin ribs, Biconcave v... OMIM:617952
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Ivic Syndrome
Aplastic clavicle, Hearing impairment, Preaxial hand polydactyly, Short thumb, Hypoplasia of the ... ORPHA:2307
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Small for gestational age, Abnormal dental ena... ORPHA:2909
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropathy, Coronary artery... OMIM:209010
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Non-Distal Duplication 13Q
Microcephaly, Micrognathia, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Sh... ORPHA:1702
Charge Syndrome
Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Micropenis, Hypop... OMIM:214800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, I... OMIM:616817
Cerebrofacioarticular Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Conducti... ORPHA:314679
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic herni... OMIM:219100
Rin2 Syndrome
Pes planus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Aort... ORPHA:217335
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Carious teet... ORPHA:2769
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi... OMIM:602080
Premature Aging Syndrome, Okamoto Type
Abnormal pinna morphology, Depressed nasal bridge, Microcephaly, Osteoporosis, Low-set ears OMIM:601811
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Small for gestational age, Renal agenesis, Ectopic kidney, Absent t... OMIM:227650
Lacrimoauriculodentodigital Syndrome 2
Duplication of thumb phalanx, Abnormal thumb morphology, Cupped ear, Microtia, Hearing impairment OMIM:620192
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Abnormal morphology of ulna, Obesity, Short neck ORPHA:2233
Peroxisome Biogenesis Disorder 1A (Zellweger)
Single transverse palmar crease, Micrognathia, Aminoaciduria, Ulnar deviation of the hand or of f... OMIM:214100
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Sho... OMIM:200610
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Pathologic fracture, Abnorm... ORPHA:83468
Atelis Syndrome 1
Carious teeth, Glue ear, Microtia, Prominent nose OMIM:620184
Radial Aplasia, X-Linked
Absent radius, Penile hypospadias OMIM:312190
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... OMIM:609465
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Posteriorly rotated ears, Short hallux, Abnormal ... ORPHA:3224
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Retrognathia, Fibular ... OMIM:165590
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Small for gestational age, Ectopic kidney, Absent t... OMIM:600901
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Abnormal morphology of ulna, Ant... ORPHA:1340
Rhiny
Short nose, Anteverted nares OMIM:180360
Bladder Exstrophy
Omphalocele, Inguinal hernia, Hypoplasia of penis, Recurrent urinary tract infections, Epispadias... ORPHA:93930
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle ... OMIM:615503
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Noonan Syndrome 4
Ureteral duplication, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Depressed n... OMIM:610733
Bruck Syndrome 2
Wormian bones, Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Pectus carina... OMIM:609220
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Ovoid vertebral bodies, A... OMIM:260400
Takenouchi-Kosaki Syndrome
Hypospadias, Overlapping toe, Unilateral renal agenesis, Proximal placement of thumb, Tapered fin... OMIM:616737
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep... OMIM:608022
Buratti-Harel Syndrome
Broad hallux, Posteriorly rotated ears, Microtia, Low-set ears, Clinodactyly of the 5th finger, B... OMIM:619314
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Sensorineural h... OMIM:614744
Intellectual Disability, Wolff Type
Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Large h... ORPHA:3080
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Joint stiffness, Micrognathia, Microcephaly,... ORPHA:1915
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Microcephaly, Short nose, Macrotia OMIM:300558
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Abnormality of the temporomandibular joint, Single transverse palmar crease, M... ORPHA:536471
Focal Dermal Hypoplasia
Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, ... ORPHA:2092
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Broad nasal tip, Wide nasal bridge, Large earlobe, Short nose OMIM:615716
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Depressed nasal bridge, Microcephaly, Bulbous nose, Protruding ear, Abnorm... ORPHA:261144
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Relative macroc... OMIM:239000
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Sacral dimple, Failure to thrive in infancy, Anteverted... ORPHA:261323
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... ORPHA:85167
Severe X-Linked Intellectual Disability, Gustavson Type
Abnormal pinna morphology, Micrognathia, Microcephaly, Recurrent upper respiratory tract infectio... ORPHA:3078
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Secondary microcephaly, Low-set ears, Hypoplasia of the antihelix... OMIM:616420
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone ORPHA:96181
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Pes planus, Inguinal hernia, Single transverse palmar crease, Cryptorchidism, Patent ductus arter... ORPHA:329224
Branchiootorenal Syndrome 1
Renal malrotation, Mixed hearing impairment, Congenital hip dislocation, Unilateral renal agenesi... OMIM:113650
Mucolipidosis Iii Gamma
Joint stiffness, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Short neck, Genu valgum... OMIM:252605
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Choanal stenos... ORPHA:798
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Mic... ORPHA:1716
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Depressed nasal bridge, Micrognathia, Ex... ORPHA:912
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands, Decreased testicular size, Cryptorchidism ORPHA:85287
Neurodevelopmental Disorder With Spasticity And Poor Growth
Anteverted nares, Single transverse palmar crease, Prominent nose, Knee flexion contracture, Larg... OMIM:618076
Kabuki Syndrome
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Conduc... ORPHA:2322
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Renal hypopl... OMIM:619758
Fraser-Like Syndrome
Subglottic stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlap... OMIM:229230
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Ectopic kidney, Short neck, Microme... OMIM:122470
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Chromosome 3Q29 Duplication Syndrome
Microcephaly, Bulbous nose, Wide nasal bridge, Macrocephaly, Short nose OMIM:611936
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal femur morphology, A... ORPHA:3130
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Low-set ears, Short nose ORPHA:1895
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... ORPHA:66637
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:129900
Xylt1-Cdg
Joint dislocation, Hepatomegaly, Relative macrocephaly, Coxa valga, Microcephaly, Flared metaphys... ORPHA:370930
Trisomy 8P
Short fourth metatarsal, Single transverse palmar crease, Short neck, Fetal pyelectasis, Nephroca... ORPHA:264450
Pelger-Huet Anomaly
Eczema, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Recurrent otitis media, Umbili... OMIM:169400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Sacral dimple, Posteriorly rotated ears, Depressed nasal bridge, Postaxial polyd... OMIM:300968
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Microcephaly, Genu valgum, Microtia, Macrocephaly, Micropenis, Hydronephrosis OMIM:617798
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Small for gestational age, Renal agenesis, Hearing impairment, Ecto... OMIM:227646
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Enamel hypomineralization, Spin... OMIM:307800
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Short neck, Tapered finger, Long fingers... OMIM:616734
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Accessory spleen, Elevated hepatic transaminase, Depressed nasal bridge, Cranio... OMIM:620005
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... ORPHA:1517
Scarf Syndrome
Bifid scrotum, Inguinal hernia, Diastasis recti, Cryptorchidism, Hepatocellular adenoma, Micropen... ORPHA:3134
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Microcephaly, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Femoral bowing, Gen... OMIM:600785
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Wide nose, Elevated circulating aspartate aminotransferase conc... OMIM:608779
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contracture, Hyperextensibilit... ORPHA:481152
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality... ORPHA:1046
Tetrasomy 18P
Low-set, posteriorly rotated ears, Short nose, Microcephaly ORPHA:3307
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Hydroureter, Wide nose, Duplication of thumb phalanx, Abnormality of the... ORPHA:2995
17P13.3 Microduplication Syndrome
Low-set ears, Wide nose, Short nose ORPHA:217385
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, S... OMIM:606164
Donnai-Barrow Syndrome
Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Bicornuate uterus, Abnormality of the ... ORPHA:2143
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp... ORPHA:2473
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Low-set e... OMIM:614069
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Short neck, Micrognathia, Pectus carinatum, Clinodactyly... OMIM:115150
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta... OMIM:118650
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Microcephaly, Sensorineural hearing impairment, Bulbous nos... ORPHA:250989
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment ORPHA:2578
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:604292
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... ORPHA:1606
Classical-Like Ehlers-Danlos Syndrome Type 2
Widened atrophic scar, Equinus calcaneus, Micrognathia, Prominent veins on trunk, Knee dislocatio... ORPHA:536532
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Secondary microcephaly, Congenital contracture, Micrognathia OMIM:615042
Cat Eye Syndrome
Renal agenesis, Micrognathia, Absent radius, Biliary atresia, Horseshoe kidney, Low-set ears, Ves... OMIM:115470
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal bones, Metatarsa... OMIM:166300
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal pinna morphology, Short neck, Broad nasal tip, Abnormal rib morphology, Small hand, Retr... ORPHA:488434
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Posteriorly rotated ears, Prominent nasal bridge, Bulbous nose, Flexion contracture, Cupped ear, ... OMIM:613870
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Conductive hearing imp... OMIM:182212
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Posteriorly rotated ears, Micrognathia, Low-set ears, Short nose, Retrognathia ORPHA:163961
Frank-Ter Haar Syndrome
Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Acne, Abnormal metacarpal morphology, ... ORPHA:137834
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Decreased palmar creases, Micrognathia, Clinodactyly of the 5th finger, Umbilica... OMIM:615834
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin... ORPHA:235
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis, Scoliosis, M... OMIM:620141
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-shaped thorax, ... OMIM:255710
Bent Bone Dysplasia Syndrome 1
Bent long bone, Hypoplastic pubic bone, Bell-shaped thorax, Decreased calvarial ossification, Sho... OMIM:614592
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears OMIM:167730
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur... ORPHA:449395
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, ... ORPHA:2044
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio... OMIM:194350
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Glandular hypospadias, Nephro... OMIM:136140
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Chromosome 17Q12 Deletion Syndrome
Micrognathia, Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Cryptorchidism, Ren... OMIM:614527
Macs Syndrome
Pes planus, Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Single transverse p... OMIM:613075
Branchiootic Syndrome 2
Abnormal pinna morphology, Hearing impairment OMIM:120502
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Micrognathia,... OMIM:618529
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Trigonocephaly 1
Short nose, Wide nasal bridge, Craniosynostosis, Microcephaly OMIM:190440
Robinow Syndrome, Autosomal Dominant 1
Short neck, Micrognathia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Disl... OMIM:180700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Knee flexion contracture, Macrovesicular hepatic steatosis, Long toe, Hepat... OMIM:608836
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones, Dentinogenesis imperfecta ORPHA:166277
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Micrognathia, Prominent nose, Microcephaly, Sensorineural hearing impairm... OMIM:301022
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Narrow chest, Sho... OMIM:616300
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Achondrogenesis, Type Ib
Inguinal hernia, Micromelia, Hypoplastic ilia, Short ribs, Umbilical hernia OMIM:600972
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Microtia OMIM:275630
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Primary microcephaly, Thickened hel... OMIM:618828
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Anteverted nares, Depressed nasal bri... ORPHA:254528
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Hepatic fibrosis, ... OMIM:266920
Kinsship Syndrome
Mandibular prognathia, Single transverse palmar crease, Short neck, Micrognathia, Dislocated radi... OMIM:619297
Silver-Russell Syndrome Due To 11P15 Microduplication
Clinodactyly of the 5th finger, Umbilical hernia ORPHA:231144
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... OMIM:619131
Cantu Syndrome
Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Patent ductus arteriosus, Broad fir... OMIM:239850
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Micrognathia, Cryptorchidism, Renal hypo... ORPHA:85321
Dysostosis, Stanescu Type
Narrow nasal bridge, Increased bone mineral density, Abnormal dental enamel morphology, Microceph... ORPHA:1798
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... OMIM:618774
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... OMIM:312150
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Rec... ORPHA:2399
Alg9-Cdg
Short neck, Micrognathia, Large fleshy ears, Narrow greater sciatic notch, Microretrognathia, Hep... ORPHA:79328
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Conductive hearing impairme... OMIM:117650
Cole-Carpenter Syndrome 2
Osteopenia, Frontal bossing, Turricephaly, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ... OMIM:616294
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Multiple suture craniosynostosis, Conductive hearing ... ORPHA:207
Microcephaly-Capillary Malformation Syndrome
Wide nose, Hypoplasia of the maxilla, Low-set ears, Short nose, Progressive microcephaly, Hearing... OMIM:614261
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Choanal stenosis, Micropenis,... ORPHA:83617
Dyrk1A-Related Intellectual Disability Syndrome
Renal cyst, Protruding ear, Clinodactyly of the 5th finger, Micropenis, Pelvic kidney, Abnormalit... ORPHA:464306
Diamond-Blackfan Anemia 1
Short neck, Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Narrow chest, T... OMIM:105650
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, M... OMIM:180860
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Antecubital pt... OMIM:618469
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Coffin-Siris Syndrome 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Prominent inter... OMIM:135900
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Small scrotum, Congenital diaphragmatic hernia, Micrognathia, Super... OMIM:618454
Lacrimoauriculodentodigital Syndrome
Micrognathia, Conductive hearing impairment, Vesicoureteral reflux, Abnormal digit morphology, Sy... ORPHA:2363
3Mc Syndrome 1
Sacral dimple, Single interphalangeal crease of fifth finger, Hearing impairment, Microcephaly, C... OMIM:257920
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Small thenar emi... OMIM:618914
Ayme-Gripp Syndrome
Posteriorly rotated ears, Hearing impairment, Tapered finger, Pectus excavatum, Sensorineural hea... OMIM:601088
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Prominent umbilicus, Hepatomegaly, Elevated hepatic transami... OMIM:608594
Peho Syndrome
Anteverted nares, Microcephaly, External ear malformation, Flexion contracture, Limitation of joi... ORPHA:2836
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal, Cryptorchidism ORPHA:2489
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... OMIM:184460
Igg4-Related Aortitis
Increased inflammatory response, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascen... ORPHA:449400
46,Xy Sex Reversal 4
Distal symphalangism, Anteverted nares, Prominent nose, Micrognathia, Sensorineural hearing impai... OMIM:154230
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology... ORPHA:95717
Osteopathia Striata-Cranial Sclerosis Syndrome
Frontal bossing, Increased bone mineral density, Flat occiput, Posteriorly rotated ears, Hyperlor... ORPHA:2780
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism, Abnor... ORPHA:3409
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Meacham Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, A... ORPHA:3097
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Anteverted nares, Carious teeth, Short nose, Macrotia, Hearing... ORPHA:2701
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Posteriorly rotated ears, Ureteral hypoplasia, Anteverted ... OMIM:614080
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Eczema, Patent ductus arteriosus, Recurrent pneumonia, Recurrent otitis media, Umbil... OMIM:617751
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Turricephaly, Joint stiffness, Microcephaly... ORPHA:1005
Hurler-Scheie Syndrome
Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Camptodactyly of finger, Thenar ... OMIM:607015
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Microcephaly, Retrognathia, Protruding ear, Microtia, Shor... OMIM:301030
Nablus Mask-Like Facial Syndrome
Small earlobe, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Posteriorly rotated ea... OMIM:608156
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Inguinal hernia, Pes planus, Hyperextensibility of the k... OMIM:130000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Abnormality of the pancreas, Long fibula, Biparietal narrowing, Abnormal metaph... ORPHA:935
Saethre-Chotzen Syndrome
Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodactyly of the 5... OMIM:101400
Smith-Kingsmore Syndrome
Rhizomelia, Diastasis recti, Short proximal phalanx of finger, Cryptorchidism, Deep plantar creas... OMIM:616638
Acrofacial Dysostosis, Catania Type
Hypospadias, Single transverse palmar crease, Cryptorchidism, Short palm, Spina bifida occulta OMIM:101805
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Prominent occiput, Darwin tubercle of helix, Supernumerary ri... OMIM:619122
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... OMIM:118100
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Kyphoscoliosis, Microcephaly, Hyp... OMIM:231070
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus... OMIM:616258
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum... OMIM:258850
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly ro... ORPHA:2972
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing, Tibia... OMIM:601559
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Platyspondyly, Scoliosis, Femoral bowing OMIM:126550
Tibial Hemimelia
Absent tibia OMIM:275220
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Abnormal lung lobation, Abnormal aortic m... ORPHA:2516
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hearing abnormality, Dentinogenesis imperfecta, Hip dislocation, P... OMIM:616507
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Recurrent skin infections, Urinary bladder inflammation, Con... ORPHA:79403
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Capitate-hamate fusion, Wide nasal bridge, Coronal craniosynostosis, Short nose, Li... OMIM:614078
Shwachman-Diamond Syndrome 2
Subglottic stenosis, Hepatomegaly, Anterior rib cupping, Microcephaly, Exocrine pancreatic insuff... OMIM:617941
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Clinodactyly of the 5th finger, Vesicou... ORPHA:857
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnor... ORPHA:2234
Congenital Myopathy 17
Mandibular prognathia, Failure to thrive in infancy, Overlapping toe, Tapered finger, Pectus exca... OMIM:618975
Ruvalcaba Syndrome
Short metacarpal, Inguinal hernia, Micromelia, Cryptorchidism, Limited elbow extension, Short met... OMIM:180870
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Depressed nasal bridge, Abnorm... ORPHA:35107
Neurofibromatosis Type 1
Abnormality of the upper urinary tract, Hearing impairment, Kyphosis, Hearing abnormality, Genu v... ORPHA:636
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, El... OMIM:619194
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Hypospadias, Unilateral renal agenesis,... ORPHA:464311
Lacrimoauriculodentodigital Syndrome 3
Short thumb, Partial duplication of thumb phalanx, Cupped ear, Microtia, Hearing impairment OMIM:620193
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Posteriorly rotated ears, Tapered fin... ORPHA:2215
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, Clinodactyl... OMIM:619522
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Microgna... ORPHA:2059
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, Short nose, Macrotia OMIM:218000
Peters-Plus Syndrome
Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb, Short neck, L... OMIM:261540
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Increased susceptibility to f... OMIM:253290
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Femoral bowing, Short long bone,... OMIM:617022
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose, Anteverted ears, Microcephaly OMIM:618087
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Low... ORPHA:800
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... ORPHA:1647
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Inguinal hernia, Micrognathia, Metatarsus adductus, Calcaneova... OMIM:616266
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, C... OMIM:609757
Transient Neonatal Diabetes Mellitus
Umbilical hernia, Abnormality of the urinary system, Abnormality of the kidney ORPHA:99886
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... ORPHA:289157
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Pancreat... ORPHA:1655
Hurler Syndrome
Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Hypoplasia of the femoral head, ... OMIM:607014
Kbg Syndrome
Syndactyly, Vertebral fusion, Posteriorly rotated ears, Microcephaly, Short neck, Rib fusion, Bra... OMIM:148050
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the ... ORPHA:818
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Posteriorly rotated ears, Microcephaly OMIM:300887
C Syndrome
Joint dislocation, Micromelia, Short neck, Micrognathia, Biparietal narrowing, Clinodactyly of th... ORPHA:1308
Townes-Brocks Syndrome 2
Overfolded helix, Cupped ear, Microtia OMIM:617466
Meckel Syndrome, Type 8
Short nose, Depressed nasal ridge, Low-set ears, Microcephaly OMIM:613885
Hurler Syndrome
Hepatomegaly, Abnormal clavicle morphology, Anteverted nares, Camptodactyly of finger, Depressed ... ORPHA:93473
Gm1 Gangliosidosis Type 1
Frontal bossing, Spatulate ribs, Macrotia, Pectus carinatum, Hypoplastic vertebral bodies, Flared... ORPHA:79255
22Q11.2 Duplication Syndrome
Wide nose, Micrognathia, Microcephaly, Urethral stenosis, Depressed nasal ridge, Anterior creases... ORPHA:1727
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Patent ductus arteriosus, Short toe, Widely spaced toes, Aortic root aneurysm, Um... ORPHA:404443
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Genu recurvatum, Uplifted earlobe, Kyphosis, Scoliosis, Macrocephaly, Macr... ORPHA:364028
Sclerosteosis 1
Syndactyly, Frontal bossing, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial p... OMIM:269500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un... OMIM:615866
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Anteverted nares, Hearing abnormality, Depressed nasal ridge, Wide ... ORPHA:2412
Fanconi Anemia, Complementation Group W
Absent thumb, Microcephaly, Hypoplasia of the radius, Renal hypoplasia, Polysplenia, Abnormal rad... OMIM:617784
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, B... ORPHA:457193
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Small scrotum, Hypospadias, Micrognathia, Lower limb asymmetry, Cryptorchidism, ... ORPHA:2505
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Talipes, Abnormality of the hand, Cryptorchidism, Interrupte... OMIM:192430
Pallister-Hall Syndrome
Ectopic kidney, Large for gestational age, Hemivertebrae, Depressed nasal ridge, Micropenis, Micr... ORPHA:672
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly ORPHA:397973
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Hepatomegaly, Short... OMIM:269860
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Abnormality of the hand, Prominent nose, Abnormal thumb morphology, Abnormal hand morpho... ORPHA:101000
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Micrognathia, Ambiguous genitalia, female, Primary amenorrhea, Deformed humer... ORPHA:2975
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... OMIM:608257
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Frontal bossing, Brachydactyly, Hyperlordosis, Short neck, Short thorax, Abnormal form of the ver... ORPHA:3218
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Genu valgum, Umbilical hernia, Shawl scrotum, Cubitus valgus ORPHA:1778
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal bridge, Short nose OMIM:618577
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... OMIM:216340
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,... ORPHA:411709
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Prominent umbilicus, Hepatomegaly, Elevated hepatic transami... OMIM:269700
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Sensorineural hearing impairment, R... ORPHA:261197
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Pneumothorax, Glandular hypospadias, Talipes equinovarus, Pulmonary hypoplasia, Shor... OMIM:620306
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Inguinal hernia, Toe syndactyly, Overlapping toe, Rocker bottom... OMIM:601808
Fanconi Anemia, Complementation Group P
Absent thumb, Micrognathia, Short thumb, Bulbous nose, Hypoplasia of the radius, Microcephaly, Ho... OMIM:613951
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Femoral bowing OMIM:615066
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Pectus carinatum, Narrow greater sciatic notch, Anterior beaking of l... OMIM:253220
7Q11.23 Microduplication Syndrome
Single transverse palmar crease, Short neck, Micrognathia, Hemivertebrae, Chronic otitis media, L... ORPHA:96121
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele,... ORPHA:261102
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short finger, Clinodactyly o... OMIM:604381
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Short long bone, ... OMIM:619479
Opitz Gbbb Syndrome
Omphalocele, Bifid scrotum, Inguinal hernia, Enlarged ovaries, Hypospadias, Congenital diaphragma... ORPHA:2745
Charge Syndrome
Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, Clinodactyly of t... ORPHA:138
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Microcephaly, Micrognathia, Delayed eruption of permanent teeth, Short nose OMIM:619356
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Hepatomegaly, Increased vertebral height, Splenomegaly, Sensorineural hear... OMIM:248500
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Depressed nasal bridge, Choanal at... OMIM:207410
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Microcephaly, Obesity, 2-3 toe syndactyly, Overfolded helix, Hyp... OMIM:618653
Microcephaly 27, Primary, Autosomal Dominant
Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly of the 5th finger... OMIM:619180
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... ORPHA:2031
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... ORPHA:107
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microceph... OMIM:300534
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Choanal stenosis, Narrow chest, Vesicoureteral reflux, Conductive hearing impairm... ORPHA:95699
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Micrognathia, Short neck, Splenomegaly, Postaxial hand polydactyly, Pancreatic lymp... OMIM:235255
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Microtia, Low-set ears, Art... OMIM:608013
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Postaxial polydactyly, Delayed closure of the anterior fonta... OMIM:618460
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... OMIM:122880
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Inguinal hernia, Hypoplasia of penis, Small scrotum, Camptodactyly of finger, ... ORPHA:2990
1P21.3 Microdeletion Syndrome
Broad nasal tip, Micrognathia, Long ear, Macrocephaly, Short nose, Joint hypermobility ORPHA:293948
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Shoulder dislocation, Arachnodactyly, Adducted thumb ORPHA:2181
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... ORPHA:3467
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Anteverted nares, Posteriorly rotated ears, Anterior open-bite malocclusion, Low-set ... OMIM:617877
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost... OMIM:241310
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... OMIM:229850
Camurati-Engelmann Disease
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... ORPHA:1328
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Isotretinoin-Like Syndrome
Anteverted nares, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the inner ear, Anotia, Microt... ORPHA:2306
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Microtia, Supernumerary ribs, Low-set ears, Atresia of the external aud... OMIM:613309
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Micrognathia, Abnormality of the ear, Depressed nasal ridge, Condu... ORPHA:2753
Thyroid Hemiagenesis
Umbilical hernia, Jaundice ORPHA:95719
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar... ORPHA:508488
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Low-set, posteri... ORPHA:2308
Lacrimoauriculodentodigital Syndrome 1
Preaxial polydactyly, Radial deviation of the 3rd finger, Conical incisor, Triphalangeal thumb, C... OMIM:149730
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Wide nose, Anteverted nares, Micrognathia, Microcephaly, Sensorineural hearing impa... ORPHA:391408
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... ORPHA:251014
Baraitser-Winter Syndrome 1
Anteverted nares, Microcephaly, Sensorineural hearing impairment, Wide nasal bridge, Overfolded h... OMIM:243310
Mosaic Trisomy 16
Syndactyly, Abnormal ear morphology, Small for gestational age, Hypospadias, Single transverse pa... ORPHA:1708
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... OMIM:265000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi... ORPHA:93271
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly o... OMIM:181270
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged neonatal jaundice, Umbi... ORPHA:226313
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenomegaly... OMIM:251290
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Increased bone mineral density, Micrognathia, Bulbous nose, Wi... ORPHA:1237
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteriorly rotated ... OMIM:618316
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Atresia of the exter... OMIM:123500
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Abnormal dental enamel morphology, Abnormality of the up... ORPHA:2916
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Depressed nasal bridge, Kyphosis, Wide an... OMIM:616482
Congenital Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Respiratory tract infection, Hepatosple... ORPHA:93400
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Low-set ears, C... OMIM:610015
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Isolated Hemihyperplasia
Cryptorchidism, Inguinal hernia, Myelomeningocele, Nephroblastoma ORPHA:2128
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... ORPHA:90324
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper ... OMIM:252900
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Jaundice ORPHA:2349
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... OMIM:250250
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Micrognathia, Microcephal... OMIM:615948
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Epispadias, Capitate-hamate fusion, Postaxia... OMIM:225500
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial n... OMIM:616629
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microcephaly, Hypoplasia of teeth, Microtia, Recurrent otitis media, Abnormality of the outer ear... ORPHA:2728
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Microcephaly ORPHA:833
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microcephaly, Micrognathia, Macrocephaly, Short nose OMIM:241800
7Q31 Microdeletion Syndrome
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Hypoplasi... ORPHA:251061
Penoscrotal Transposition
Hypospadias, Abnormal external genitalia, Renal agenesis, Micrognathia, Abnormality of the urethr... ORPHA:2842
Verheij Syndrome
Joint laxity, Vertebral fusion, Anteverted nares, Broad nasal tip, Microcephaly, Wide nasal bridg... OMIM:615583
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus arteriosus, Clinodactyly ... ORPHA:228190
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Inguinal hernia, Acces... OMIM:613177
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic... OMIM:616331
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, M... OMIM:612626
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... ORPHA:2377
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Diamond-Blackfan Anemia
Renal agenesis, Small for gestational age, Hypospadias, Short neck, Absent thumb, Short thumb, Pa... ORPHA:124
Gapo Syndrome
Dysmenorrhea, Abnormal cerebral vascular morphology, Micrognathia, Nephrolithiasis, Oligozoosperm... ORPHA:2067
Pagod Syndrome
Encephalocele, Omphalocele, Multicystic kidney dysplasia, Spina bifida, Congenital diaphragmatic ... ORPHA:991
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Microtia, Foot polydactyly, Scoliosis, Nephroblastoma, Enlarged... ORPHA:276280
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Microcephaly DECIPHER:52
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Short neck, Rib fusion, Brachycephaly, Hemivertebrae, Vertebra... ORPHA:1394
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary ... OMIM:601389
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ... OMIM:107480
Trichohepatoenteric Syndrome 1
Hepatomegaly, Wide nose, Small for gestational age, Hypospadias, Anteverted nares, Avascular necr... OMIM:222470
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Hearing abnormality, ... ORPHA:1912
Feingold Syndrome
Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, External e... ORPHA:1305
Feingold Syndrome Type 1
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne... ORPHA:391641
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Tetralogy of Fallot ORPHA:1381
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Eczema, Recurrent upper respiratory tract infections, Rhizomelic... ORPHA:508542
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow greate... OMIM:312870
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Conv... ORPHA:93262
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Posteriorly rotated ears, Craniosynostosis, Low-set ears, Malar flattening, Sho... OMIM:601853
Shprintzen-Goldberg Syndrome
Osteopenia, Anteverted nares, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia... ORPHA:2462
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Micrognathia, Conductive hearing impairment, Vesicoureteral reflux, Abnormal... ORPHA:444077
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Perianal abscess, Cryptorchidism, Small hand, Micropenis, Broad finger, Clinodactyly, Short phala... OMIM:614684
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Low-set ears, Macrocephaly, Short... OMIM:618430
Trisomy 18
Microretrognathia, Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormality of the... ORPHA:3380
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Inguinal hernia, Talipes equinovarus OMIM:617662
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Convex nasal ridge, Short neck, Micrognathia, Tibial bowing, Clinodactyly of the 5th finger, Micr... ORPHA:251028
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Macrotia, Microcephaly,... OMIM:613026
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Cryptorchidism, Abnormal foot morphology, Arthrogryposis-lik... ORPHA:369891
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Conjunctivitis, Abnormal dental enamel morphology, Abnormality of the kidney, Abnormalit... ORPHA:2273
Occipital Horn Syndrome
Venous insufficiency, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the ... ORPHA:198
Desmoid Tumor
Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti... ORPHA:873
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Choanal stenosis, Severe senso... OMIM:620186
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Abno... ORPHA:249
Coffin-Siris Syndrome 3
Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th ... OMIM:614608
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Micro Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Micrognathia, Microceph... ORPHA:2510
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Macrocephaly, Advanced eruption of teeth, S... OMIM:614753
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Humero... OMIM:101600
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Congenital hip dislocation, Cryptorchidism, Hip dislocation, Talipes equinovarus... OMIM:219150
Pycnodysostosis
Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima... ORPHA:763
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Joint hyperflexibility, Short nose, Retrognath... ORPHA:166272
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Microcephaly, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia OMIM:234050
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Hepatomegaly, Recurrent urinary tract infections, Overlapping toe, Small f... ORPHA:99843
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos... ORPHA:261494
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Micrognathia, Microcephaly, Wide nasal bridge, Microtia, Short nose, Hearing im... ORPHA:2282
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Camptodactyly of finger, Abnormal pinna morphology, Long nos... ORPHA:261211
Monosomy 9Q22.3
Delayed eruption of teeth, Large for gestational age, Short neck, Kyphosis, Palmar pits, Pectus e... ORPHA:77301
C Syndrome
Fused sternal ossification centers, Anteverted nares, Posteriorly rotated ears, Micrognathia, Mic... OMIM:211750
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Large for gestational age, Short neck, Dental maloc... ORPHA:2563
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed ep... OMIM:300554
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... OMIM:300009
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Overfolded helix, Low-set ears, Macrocephaly, Short nose OMIM:613735
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Protruding e... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Protruding e... ORPHA:363958
Periventricular Nodular Heterotopia 9
Posteriorly rotated ears, Tapered finger, Microcephaly, Microtia, Squared superior portion of hel... OMIM:618918
Diphallia
Bifid scrotum, Ureteral duplication, Inguinal hernia, Rectoperineal fistula, Hypospadias, Renal d... ORPHA:227
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose OMIM:613443
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Macrocephaly, L... OMIM:617822
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Hypoplasia of the thymus, Otitis media, Hepatomegaly, Perianal a... OMIM:612541
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
Loeys-Dietz Syndrome 2
Micrognathia, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Syndactyly, Arachnod... OMIM:610168
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:263520
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Hepatomegaly, Antevert... OMIM:252940
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Large for gestational age, Micrognathia, Hyp... OMIM:213980
Mucolipidosis Ii Alpha/Beta
Micrognathia, Metaphyseal widening, Hepatomegaly, Hypoplasia of the odontoid process, Split hand,... OMIM:252500
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Anteverted nares, Single transv... OMIM:618161
Trisomy 12P
Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, Low-set ears, Malar flattening, S... ORPHA:1699
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Split hand, Flex... OMIM:309900
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Micrognathia, Microcephaly, Achilles ... ORPHA:363528
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Prolonged neonat... ORPHA:95716
De Barsy Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, C... ORPHA:2962
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Advanced ossification of carpal ... OMIM:614613
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Underdeveloped nasal alae, Prominent nose, Micrognathia, Supernumerary tooth, Sensorineural heari... ORPHA:90024
Adnp Syndrome
Joint laxity, Broad hallux, Sandal gap, Microcephaly, Abnormal toe morphology, Abnormal finger mo... ORPHA:404448
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Patent ductus arteriosus, Drumstick terminal phalanges, Umbilical hernia, Brachyd... OMIM:612938
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... OMIM:618143
Menkes Disease
Bowing of the long bones, Inguinal hernia, Osteomyelitis, Tarsal synostosis, Micrognathia, Venous... ORPHA:565
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Short nose, Hearing impairment OMIM:619736
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Hepatic... OMIM:180849
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Hepatomegaly, Elevated circulating a... OMIM:280000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Pes planus, Inguinal hernia, Widened atrophic scar, Recurrent pneumonia, Hip dislocation, Elbow f... ORPHA:1900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Microcephaly, Wide nasal br... ORPHA:453499
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Abnormal localizatio... ORPHA:921
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulder... OMIM:109400
Baker-Gordon Syndrome
Joint laxity, Prominent nasal tip, Short nose OMIM:618218
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Talipes, Micrognathia, Renal hypopl... ORPHA:2166
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Drumstick terminal phal... ORPHA:541423
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Low-set ears, Malar flattening... OMIM:242860
Faundes-Banka Syndrome
Micrognathia, Underdeveloped nasal alae, Bulbous nose, Cupped ear, Microtia, Lumbar hemivertebrae... OMIM:619376
Chand Syndrome
Atelectasis, Short fifth metatarsal, Imperforate hymen, Hydroureter ORPHA:1401
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short meta... OMIM:305600
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Macrotia, Wide nasal bridge, Short nose OMIM:620292
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Congenital hip dislocation, Short metatarsal, Finger clinodactyly, Conductiv... OMIM:617137
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Microcephaly, Carious teeth, Low-set ears, Malar flattening, Short nose, Joint ... OMIM:219200
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short neck, Micrognathia, Vesicoureteral reflux, Micropenis, Hypospadias, Anteverted nares, Depre... OMIM:309580
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Genu valgum, Cleft palate, Small pituitary gland, Micropenis,... OMIM:614880
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Ectopic kidney, Cryptorchidism, Short thumb, Pulmonary ar... ORPHA:401935
Mosaic Trisomy 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Renal cyst, Finger clinodactyly... ORPHA:1692
Luo-Schoch-Yamamoto Syndrome
Short foot, Umbilical hernia, Recurrent otitis media, Small hand OMIM:619460
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Overfolding of the superior helices, Hypoplastic ischia, Bowing of the legs, Bell-sha... ORPHA:313855
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowing, Conge... ORPHA:453510
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Overlapping toe, Unilateral renal agenesis, Proxi... ORPHA:487796
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose, Joint stiffness ORPHA:969
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Micrognathia, Dental malocclusion, Contractures of the large joints, Short nose, Prog... ORPHA:329178
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Microcephaly ORPHA:280195
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi... ORPHA:261265
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Shor... ORPHA:434179
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Pulmonary ... OMIM:615524
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,... OMIM:109120
Congenital Disorder Of Glycosylation, Type Il
Short nose, Depressed nasal bridge, Low-set ears, Microcephaly OMIM:608776
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Long nose, Underdeveloped nas... OMIM:257850
Meckel Syndrome
Ureteral duplication, Micrognathia, Asplenia, Urethral atresia, Encephalocele, Accessory spleen, ... ORPHA:564
Dermotrichic Syndrome
Short nose, Macrotia, Depressed nasal bridge ORPHA:99688
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta, Hydronephrosis OMIM:618060
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Macrotia, Wide nasal bridge, Ov... OMIM:617061
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoul... OMIM:193700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Rena... OMIM:610199
Warburg Micro Syndrome 2
Prominent nasal bridge, Asymmetry of the ears, Microcephaly, Flexion contracture, Secondary micro... OMIM:614225
Arterial Tortuosity Syndrome
Inguinal hernia, Carotid artery dissection, Arachnodactyly, Congenital diaphragmatic hernia, Hiat... OMIM:208050
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Low-set ... ORPHA:171430
Rapadilino Syndrome
Joint dislocation, Slender nose, Aplasia/Hypoplasia of the patella, Absent thumb, Aplasia/Hypopla... OMIM:266280
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Micrognathia, Delayed p... ORPHA:163649
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Hepatoblastoma, Nephropathy, Vesicouretera... ORPHA:116
Donnai-Barrow Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme... OMIM:222448
Cohen Syndrome
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrodontia of per... OMIM:216550
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Micrognathia, Abnormal rib morphology,... OMIM:601076
Amme Complex
Inguinal hernia, Sandal gap, Diastasis recti, Clinodactyly of the 2nd toe, Hematuria, Prominent f... OMIM:300194
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Depressed nasal ridge, Conductive hearing impairment, Clinodactyly of the 5th fin... OMIM:607872
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Rectovaginal fistula, Recurrent otitis med... OMIM:619426
Scarf Syndrome
Bifid scrotum, Inguinal hernia, Diastasis recti, Cryptorchidism, Micropenis, Perineal hypospadias... OMIM:312830
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Abnormality of the kidney, Tapered finger, Precocious puberty, Vesicoureteral re... ORPHA:261652
Warburg Micro Syndrome 3
Microcephaly, Micrognathia, Flexion contracture, Secondary microcephaly, Short nose, Macrotia OMIM:614222
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Microcephaly, Distal arthrogrypos... OMIM:619833
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b... OMIM:613776
Tetrasomy 9P
Myositis, Micrognathia, Biliary atresia, Clinodactyly of the 5th finger, Micropenis, Amelogenesis... ORPHA:3310
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Hypospadias, Single transverse palmar crease, Ankle flexion co... ORPHA:435938
Rhombencephalosynapsis
Microretrognathia, Low-set, posteriorly rotated ears, Anteverted nares, Macrocephaly, Short nose ORPHA:59315
Craniofacial Microsomia 1
Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Hemivertebrae, Anotia, Conductive hearin... OMIM:164210
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Posteriorly rotated ears, Micrognathia, Broad nasal tip, Long fingers,... OMIM:617557
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Anteverted nares, Depressed nasa... ORPHA:192
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... ORPHA:1145
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Long thorax, Narrow chest, Chronic otitis media, Small ea... OMIM:616268
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Tarsal synostosis, Micrognathia, Hypoplasia of the maxilla, Talo... ORPHA:363417
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Dolichocephaly, B... OMIM:252930
Lateral Meningocele Syndrome
Inguinal hernia, Neurogenic bladder, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Meni... OMIM:130720
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Split hand, Aplasia/... ORPHA:2117
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Inguinal hernia, 3-Methylglutaric aciduria, Single transverse palmar crease OMIM:250951
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Secondary amenorrhea, Polycystic ovari... ORPHA:3085
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Depressed nasal bridge, Macrocephaly ORPHA:210548
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Unilateral... ORPHA:221139
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Posteriorly rotated ears, Cholelithiasis, Depressed nasal bridge, Tapered finger, H... OMIM:301066
Doors Syndrome
Hemivertebrae, Abnormal finger morphology, Nephrocalcinosis, Triphalangeal thumb, Clinodactyly of... ORPHA:79500
Myhre Syndrome
Abnormal penis morphology, Mandibular prognathia, Brachydactyly, Hypospadias, Hearing impairment,... ORPHA:2588
Digeorge Syndrome
Micrognathia, Parathyroid hypoplasia, Hypoplasia of the thymus, Hepatic steatosis, Femoral hernia... OMIM:188400
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Craniosynostosis, Micrognathia, Microcephaly, Bulbous nose, Low-set ears,... OMIM:614114
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Abnormali... ORPHA:314473
Glycosylphosphatidylinositol Biosynthesis Defect 11
Umbilical hernia, Inguinal hernia OMIM:616025
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Micrognathia, Lower limb asymmetry, Cryptorchidism, Abnormal lung lobati... ORPHA:2063
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Hepatosplenomegaly, Umbilical hernia, C... ORPHA:93399
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Wormian bones, Tapered finger, Cupped ear, Flat acetabular roof, Macrocephal... OMIM:617159
Acrocallosal Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Postaxial hand pol... ORPHA:36
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Frontal bossing, Microtia, Low-set ears, Macrocephaly, Adducted thumb OMIM:614643
Igg4-Related Retroperitoneal Fibrosis
Large vessel vasculitis, Pedal edema, Retrograde ejaculation, Hashimoto thyroiditis, Psoriasiform... ORPHA:49041
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Microcephaly, Sensorineural hearing impairment, Flexion contracture, Hyperex... ORPHA:544503
Bartsocas-Papas Syndrome
Microcephaly, Underdeveloped nasal alae, Micrognathia, Short nose, Synostosis of joints ORPHA:1234
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Microcephaly, Wide nasal bridge, Joint contracture, Retrognathia, Short nose OMIM:618005
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Craniosynostosis, Choanal stenosis, Low-set ears, Short nose, Maxillozygomatic ... ORPHA:1790
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Cli... ORPHA:63
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, ... OMIM:270400
Hajdu-Cheney Syndrome
Inguinal hernia, Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Patent ductus... OMIM:102500
Congenital Pulmonary Valvar Stenosis
Laryngeal stenosis ORPHA:3189
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Micrognathia ORPHA:1514
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology, Osteolysis, Joint stiffness ORPHA:296
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Crypto... ORPHA:3121
Transaldolase Deficiency
Abnormality of the kidney, Hepatosplenomegaly, Coarctation of aorta, Abnormality of the clitoris,... ORPHA:101028
Distal Deletion 10P
Hypoplasia of penis, Micrognathia, Cryptorchidism, Abnormality of the elbow, Cleft palate, Polycy... ORPHA:1580
Orofaciodigital Syndrome Type 1
Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Finger syndactyly, Multicysti... ORPHA:2750
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint stiffness, Microcephaly, Protruding ear, Low-set ears, Short nose, ... OMIM:617988
Chime Syndrome
Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phal... ORPHA:3474
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgen... ORPHA:3306
Axenfeld-Rieger Syndrome, Type 2
Umbilical hernia, Inguinal hernia, Hypospadias, Cryptorchidism OMIM:601499
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Narrow nose, Underdeveloped nas... OMIM:164200
Tetrasomy 5P
Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Low-set ears, Macroc... ORPHA:3309
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neoplasm, Esophageal neoplasm, R... ORPHA:2869
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Diastasis recti OMIM:606893
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, M... OMIM:612651
Acrofacial Dysostosis, Catania Type
Microretrognathia, Low-set, posteriorly rotated ears, Microcephaly, Carious teeth, Hypoplasia of ... ORPHA:1786
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Arachnodactyly, Microcephaly, Pectus excavatum, Increased vertebral height, Sensorineural hearing... OMIM:610474
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Depressed nasal bridge, Microcephaly, Sensorineura... OMIM:618500
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ... ORPHA:85165
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Micrognathia, External ear malformation, Microcephaly, Wide nasal bridge,... ORPHA:251071
Smith-Magenis Syndrome
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Delayed eruption of primary teet... ORPHA:819
Thyroid Dyshormonogenesis 1
Umbilical hernia, Goiter OMIM:274400
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... ORPHA:3455
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Rocker bottom foot, Patent ductus arteriosus, Short 2nd toe, Hip dysplasia, Clinodacty... OMIM:612582
3Mc Syndrome 2
Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Limited elbow movement, Cranio... OMIM:265050
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the zygomatic bone, Low-... ORPHA:1812
Webb-Dattani Syndrome
Neurogenic bladder, Hip dislocation, Obesity, Hyposthenuria, Secondary microcephaly, Vesicoureter... OMIM:615926
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Short metacarpal, Inguinal hernia, Sandal gap, Single transverse palmar ... OMIM:601358
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis... ORPHA:560
Genitopatellar Syndrome
Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture, Micropenis, S... OMIM:606170
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Cle... ORPHA:364577
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R... OMIM:270420
3Mc Syndrome
Diastasis recti, Supernumerary nipple, Bilateral cryptorchidism, Hip dislocation, Radioulnar syno... ORPHA:293843
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Weight loss, Arthritis, Abnormal epiphysis morphology, Scol... ORPHA:324964
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Ureteral duplication, Congenital diaphragmatic hernia, Paten... OMIM:600001
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Narrow nasal bridge, Osteopenia, Hip contracture, Interphalangeal join... OMIM:259600
Peho Syndrome
Short nose, Retrognathia, Progressive microcephaly OMIM:260565
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Hypospadia... OMIM:304110
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Finger syndactyly, Female pseudohermaphroditism, Ectopic kidney, Cryptorchidism, Sho... ORPHA:1519
Cardiac Valvular Dysplasia 1
Inguinal hernia, Hydroureter, Arteria lusoria, Left aortic arch with cervical origin of the right... OMIM:212093
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Proteinuria, Micrognathia, Cryptorchidism, Chordee, Hypoplast... OMIM:300519
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Dense calvaria, Hearing impairment OMIM:252920
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, ... ORPHA:567
Tatton-Brown-Rahman Syndrome
Vesicoureteral reflux, Umbilical hernia, Patellar subluxation, Talipes valgus OMIM:615879
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Wide... ORPHA:861
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Inguinal hernia, Rocker bottom foot, Micrognathia, Flexion contracture, Hip dis... OMIM:618947
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Micrognathia, Microcephaly, Sensorineural hearing impair... OMIM:300749
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Renal hypoplasia, Abnormality of the vertebral column, Abnormal v... OMIM:276950
Netherton Syndrome
Skin rash, Eczema, Malabsorption, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis ORPHA:634
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematuria, Aplasia/Hypo... ORPHA:1765
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Umbilical hernia, Short distal phalanx of finge... ORPHA:2963
Hereditary Hyperekplexia
Hiatus hernia, Hip dislocation, Esophagitis, Hernia, Umbilical hernia ORPHA:3197
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... OMIM:108120
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:457083
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, D... OMIM:300869
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia,... ORPHA:2795
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc... OMIM:613686
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Aplasia of the bladder, ... ORPHA:158684
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Secondary microcephaly, Primary microcephaly ORPHA:289266
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Macrocephaly, Advanced eruption of teeth, Short nose, Broad columella, Pr... OMIM:617865
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Abnormal ... OMIM:617667
Momo Syndrome
Frontal bossing, Underfolded helix, Short neck, Brachycephaly, Large hands, Short sternum, Macroc... OMIM:157980
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Apla... ORPHA:2470
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Microcephaly, Wide nasal bridge, Scoliosis, Short nose, Failure to thrive... OMIM:619179
Wrinkly Skin Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the ant... ORPHA:2834
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Down Syndrome
Joint laxity, Sandal gap, Hypoplastic iliac wing, Conductive hearing impairment, Atlantoaxial ins... OMIM:190685
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Split hand, Abnormal rib morpho... ORPHA:1300
Toriello-Carey Syndrome
Abnormal pinna morphology, Hearing impairment, Micrognathia, Short neck, Microcephaly, Wide anter... ORPHA:3338
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m... ORPHA:1297
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Prominent superficial veins, Arachnodactyly, Hiatus hernia, Atrophic scars, Peri... OMIM:130080
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Short nose, Protruding ear, Camptodactyly OMIM:615539
Oncogenic Osteomalacia
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal fem... ORPHA:352540
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis, Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Cutaneo... OMIM:219000
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Posteriorly rotated ears, ... OMIM:605627
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Anteverted nares, Microcephaly, Wide nasal bridge, Radioulnar synostosis, Low-s... OMIM:614701
Cleidocranial Dysplasia 2
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... OMIM:620099
Adams-Oliver Syndrome 5
Syndactyly, Inguinal hernia, Portal vein thrombosis, Hypersplenism, Splenomegaly, Umbilical herni... OMIM:616028
Bainbridge-Ropers Syndrome
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Micrognathia, Underdeveloped na... OMIM:615485
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Joint stiffness, Macrocephaly, Short nose ORPHA:2746
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Renal cys... OMIM:113620
Immunodeficiency 49
Umbilical hernia, Pulmonary artery stenosis, Psoriasiform dermatitis, Micrognathia OMIM:617237
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Low-set ears, Macrocephaly, Malar flattening, Short nos... ORPHA:357001
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... ORPHA:2752
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Clitoral hypoplasia, Short ... ORPHA:3107
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairmen... OMIM:239300
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Anteverted nares, Hypoplasia of the maxill... OMIM:305400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Micrognathia, Microcephaly, ... OMIM:217980
Meacham Syndrome
Accessory spleen, Congenital alveolar dysplasia, Aplasia of the right hemidiaphragm, Septate vagi... OMIM:608978
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing present at birt... OMIM:166220
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Inguinal hernia, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidi... ORPHA:397590
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Extra concha fold,... OMIM:209885
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Thoracic kyphosis, Short pal... ORPHA:508498
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Craniotubular Dysplasia, Ikegawa Type
Thickened calvaria, Metaphyseal dysplasia, Dolichocephaly, Increased intervertebral space, Broad ... OMIM:619727
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Brachydactyly, Bowing of the long bones, Inguinal hernia, Hypos... ORPHA:955
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ... OMIM:617641
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia, Prolonged neonatal jaundice, Goiter ORPHA:95715
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short umbilical cord, Tapered finger OMIM:618367
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Pes planus, Scapular winging, Descending aortic dissection, Osteoarthritis, Bronchiectasis, Small... OMIM:620080
Stromme Syndrome
Accessory spleen, Prominent nasal bridge, Micrognathia, Microcephaly, Bilateral renal hypoplasia,... OMIM:243605
16P12.1P12.3 Triplication Syndrome
Bulbous nose, Large earlobe, Low-set ears, Malar flattening, Short nose, Retrognathia ORPHA:485405
Geleophysic Dysplasia 3
Subglottic stenosis, Epiphyseal dysplasia, Hepatomegaly, Anteverted nares, Depressed nasal bridge... OMIM:617809
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Arach... OMIM:613795
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormality of connective tissue, Abdominal aortic aneurysm, ... ORPHA:91387
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Inguinal hernia, Hypospadias, Metatarsus adductus, Patent ductus arteriosus... OMIM:611962
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Microcephaly, Splenomegaly, Renal... OMIM:617913
Macrocephaly/Autism Syndrome
Joint laxity, Depressed nasal bridge, Biparietal narrowing, Recurrent otitis media, Short nose, P... OMIM:605309
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ski... OMIM:620210
16P13.11 Microduplication Syndrome
Pes planus, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition of the great ar... ORPHA:261243
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Microcephaly, Joint hyperflexibility, Low-set ears, Macrocephaly, Short n... ORPHA:65286
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Small for gestational age, Cystathioninuria, Methylmalonic aciduria, Microtia, Tali... OMIM:277380
Aneurysm-Osteoarthritis Syndrome
Pes planus, Osteoarthritis of the small joints of the hand, Inguinal hernia, Arachnodactyly, Camp... ORPHA:284984
Mosaic Trisomy 20
Vertebral fusion, Abnormality of the kidney, Down-sloping shoulders, Micrognathia, Hearing impair... ORPHA:1724
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hyperextensibility of the finger joints, Hepatomegaly, Splenomegaly, Patent... OMIM:135500
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor... ORPHA:2075
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection OMIM:135580
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Postaxial h... ORPHA:110
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Patent ductus arteriosus, Abnormal metacarpal morphology, Umbilical her... ORPHA:2095
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Low-set ears, Shor... OMIM:619383
Meester-Loeys Syndrome
Pes planus, Aortic dissection, Arachnodactyly, Ascending tubular aorta aneurysm, Aortic root aneu... OMIM:300989
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... ORPHA:210122
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Aminoaciduria, Umbilical hernia, Ketonuria OMIM:614520
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Recurrent urinary tract infections, Toe syndactyly, Decreased response to growth hormone stimulat... OMIM:619234
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Low-set ears, Short nose, Bicoronal synostosis, Hearing impairment ORPHA:93258
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent ... OMIM:619769
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Micrognathia, Protruding ear, Prominent fingertip ... OMIM:147920
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Chronic otitis media, Clinodactyly of the 5th finger, Abnorma... ORPHA:96263
Distal Deletion 10Q
Prominent nasal bridge, Craniosynostosis, Prominent nose, Micrognathia, Congenital sensorineural ... ORPHA:96148
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Oligozoospermia, Pyelonephritis, Varicose veins, Keloid... OMIM:314300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal curvature of the vertebral column, Otitis media, Vesicoureteral reflux, Conductive heari... ORPHA:353281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostosis, Craniosynostosis, Cond... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostosis, Craniosynostosis, Cond... ORPHA:352665
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge, Hearing impairment ORPHA:782
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Hear... ORPHA:284169
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Anteverted nares, Depressed nasal b... OMIM:166250
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Peters Plus Syndrome
Ureteral duplication, Micromelia, Short neck, Micrognathia, Conductive hearing impairment, Clinod... ORPHA:709
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge, Secondary microcephaly OMIM:618437
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Microcephaly, Prominent nose, Wide nasal bridge, Abnormal cortical ... OMIM:614886
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Limitation of joint mobility, Atresia of the external au... ORPHA:93259
Opitz Gbbb Syndrome
Inguinal hernia, Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posterior urethra... OMIM:300000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Micrognathia, Patent ductus arteriosus, Hypercalciuria, Nephroc... OMIM:300990
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Micrognathia, Coxa valga, Precocious... OMIM:620073
Cranioectodermal Dysplasia 2
Cholangitis, Short neck, Micrognathia, Renal cyst, Narrow chest, Simple ear, Syndactyly, Hepatome... OMIM:613610
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Macrotia, ... ORPHA:3042
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad nasal tip, Microcephaly, Wide nasal bridge, Left unicoronal synostosis, Short nose, Hearing... OMIM:614749
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Anteverted nares, Posteriorly rotated ears, Micrognathia, Microcephaly... OMIM:247200
9P13 Microdeletion Syndrome
Microretrognathia, External genital hypoplasia, Precocious puberty, Recurrent otitis media, Clino... ORPHA:324313
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Septate vagina... ORPHA:2237
Cardiac Diverticulum
Omphalocele, Abnormal coronary artery origin, Diastasis recti, Aplasia/Hypoplasia of the sternum,... ORPHA:1686
Osteogenesis Imperfecta, Type I
Otosclerosis, Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermob... OMIM:166200
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Exocrine pancreatic insufficiency, Patent ... ORPHA:2255
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Cleft ala nasi, Urethral atresia, V... ORPHA:2052
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge ORPHA:1540
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the upp... ORPHA:371428
Visceral Myopathy 1
Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon, Megacystis, Hydronephrosis, Uri... OMIM:155310
Pentalogy Of Cantrell
Absent gallbladder, Renal agenesis, Hypospadias, Abnormal tibia morphology, Split hand, Aplasia/H... ORPHA:1335
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Low-set ears, Short ... OMIM:619859
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Spontaneous neonatal pneumothorax, Micrognathia, Short toe, Atrophic scars, Limb... OMIM:225410
Dextrocardia
Congenital hip dislocation, Abnormal reproductive system morphology, Abnormality of the spleen, A... ORPHA:1666
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Microcephaly, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, S... ORPHA:2519
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Phocomelia, Hepato... ORPHA:2538
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Craniosynostosis, A... ORPHA:289176
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Scalp-Ear-Nipple Syndrome
Underdeveloped antitragus, Abnormal antihelix morphology, Microtia, Small earlobe, Underdeveloped... ORPHA:2036
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Micrognathia, Abnormal tibia morphology,... ORPHA:363700
Teebi Hypertelorism Syndrome 1
Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Micrognathia, W... OMIM:145420
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Ureteral duplication, Ureteral stenosis, Bilateral trilobed lung, Asplenia... OMIM:270100
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... ORPHA:30
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ... ORPHA:199310
Aicardi Syndrome
Block vertebrae, Missing ribs, Microcephaly, Small hand, Rib fusion, Protruding ear, Plagiocephal... ORPHA:50
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Carious teeth, Generalized joint laxity, Prominent nasolabial ... ORPHA:357074
Burkitt Lymphoma
Intestinal obstruction, Abnormality of the pancreas, Abnormality of the spleen, Abnormality of th... ORPHA:543
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lo... OMIM:615415
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr... OMIM:617093
Desbuquois Dysplasia 1
Microretrognathia, Joint laxity, Depressed nasal bridge, Osteoarthritis, Osteoporosis, Advanced o... OMIM:251450
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose ORPHA:1389
Aspergillosis
Abnormality of the kidney, Abnormal rib morphology, Hepatitis, Abnormal long bone morphology, Nas... ORPHA:1163
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Microcephaly, Sensorineural he... ORPHA:261236
Adenylosuccinase Deficiency
Short nose, Anteverted nares, Low-set ears, Microcephaly OMIM:103050
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Inguinal hernia, Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, ... ORPHA:1292
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Joint stiffness, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology, Short nose ORPHA:1295
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Retroperitoneal fibrosis, Weight loss, Joint swelling, Abnormal epi... ORPHA:35687
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Abnormality of the abdominal wall... ORPHA:281090
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears, Short nose OMIM:618571
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Conductive hearing impairment, Dental mal... ORPHA:199306
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Long foot, Abnormal thumb morph... ORPHA:500095
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Hallux valgus, Laryngeal stenosis, Thumb contracture, Low-set, posteriorly rotated ears, Duplicat... ORPHA:324540
Harel-Yoon Syndrome
Mandibular prognathia, Short nose, Micrognathia OMIM:617183
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Kindler Epidermolysis Bullosa
Urethral stricture, Laryngeal stenosis, Finger syndactyly, Camptodactyly of finger, Abnormal dent... ORPHA:2908
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Posteriorly rotated ears, Tapered finger, Pectus excavatum, Sensorineural hea... OMIM:616973
Oculodentodigital Dysplasia
Mandibular prognathia, Narrow nasal bridge, Anteverted nares, Abnormal dental enamel morphology, ... ORPHA:2710
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Abnormal dental ... ORPHA:1896
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Prominent nose, Low-set, posteriorly rotated ears, Depressed nasal br... ORPHA:480880
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abno... ORPHA:93941
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Conductive hearing impairment, Vesicoureteral reflux, Anteverted nares, Rib fusi... OMIM:157800
Frontorhiny
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasti... ORPHA:391474
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Microretrognathia, Arachnodactyly, Posteriorly rotated ears, Hearing impairmen... OMIM:601776
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Vesicoureteral reflux, Co... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, Otitis media, Vesicoureteral reflux, Co... ORPHA:353277
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Microcephaly, Bulbous nose, Short nose OMIM:614105
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Cryptorchidism, Lipoma, Pelvic kidney, Multiple central nervous system lipom... OMIM:613001
Okamoto Syndrome
Prominent metopic ridge, Anteverted nares, Urinary incontinence, Depressed nasal bridge, Underdev... ORPHA:2729
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdev... OMIM:300912
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Conductive ... OMIM:194190
Goldberg-Shprintzen Syndrome
Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Bulbous nose, Wide nasal bridge,... OMIM:609460
Alveolar Echinococcosis
Low back pain, Abnormal pelvis bone morphology, Liver abscess, Cholangitis, Portal hypertension, ... ORPHA:284
Miller-Dieker Syndrome
Short nose, Anteverted nares ORPHA:531
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad... OMIM:101800
Tetrasomy 12P
Delayed eruption of teeth, Joint hyperflexibility, Short nose, Anteverted nares ORPHA:884
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Inguinal hernia, Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Umb... OMIM:614052
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Micrognath... ORPHA:50945
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Micrognathia, Cessation of head growth, Contractures of the large joint... OMIM:617527
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Gonadal calcificatio... ORPHA:314478
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Clubbing, ... OMIM:175200
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia... OMIM:249000
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... ORPHA:50814
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal b... ORPHA:920
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Toe syndactyly, Renal agenesis, Ectopic kidney, Bulbous nose, Hypoplasia of ... ORPHA:140952
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Single transverse palmar crease, Micrognathia, Cryptorchidism, Patent ductus ar... ORPHA:3304
Trichothiodystrophy 1, Photosensitive
Microcephaly, Flexion contracture, Retrognathia, Protruding ear, Short nose, Macrotia OMIM:601675
Down Syndrome
Sandal gap, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Decreased ferti... ORPHA:870
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Ascending aortic dissection, Arachnodactyly, Aortic tortuosity OMIM:616166
Cohen Syndrome
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Sensorineural hear... ORPHA:193
Pseudotrisomy 13 Syndrome
Encephalocele, 11 pairs of ribs, Omphalocele, Renal agenesis, Cryptorchidism, Postaxial hand poly... OMIM:264480
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, Joi... OMIM:604173
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Pulmonary artery a... OMIM:618164
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Pes planus, Short metacarpal, Inguinal hernia, Micrognathia, Metaphyseal chondrody... ORPHA:166035
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Ag... OMIM:610829
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, ... OMIM:614857
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Palmoplantar cutis gyrata, Cryptorchidism, Prominent scrotal raphe, Abnormality of... ORPHA:1555
Diets-Jongmans Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hip dysplasia, Int... OMIM:618846
Snijders Blok-Campeau Syndrome
Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Abnormal foot morphology OMIM:618205
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Chronic otitis media, Clinodactyly of the 5th finger, Abnorma... ORPHA:96264
Classical Ehlers-Danlos Syndrome
Incisional hernia, Osteoarthritis, Shoulder dislocation, Dislocated radial head, Hiatus hernia, A... ORPHA:287
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodont... ORPHA:534
Monosomy 22Q13.3
Renal dysplasia, Sacral dimple, Bulbous nose, Dental malocclusion, Obesity, Wide nasal bridge, La... ORPHA:48652
Triploidy
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hepatomegaly, Hypospadias, Micrognathia, Cry... ORPHA:3376
Acrocallosal Syndrome
Microretrognathia, Finger syndactyly, Inguinal hernia, Toe syndactyly, Hypospadias, Duplication o... OMIM:200990
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Pes planus, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary ame... OMIM:244200
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concen... OMIM:619991
Trisomy 10P
Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials, Abnormality of the... ORPHA:171929
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Double outlet right ventricle, Coarctation of aorta, Transpo... OMIM:217095
Thakker-Donnai Syndrome
Posteriorly rotated ears, Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Cervical C2/... ORPHA:1780
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Wide nasal bridge, Atresia of the external auditory canal, Conductive ... OMIM:106260
Holoprosencephaly 13, X-Linked
Micrognathia, Microcephaly, Microtia, Aplasia of the nose, Low-set ears, Hearing impairment OMIM:301043
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Umbilical hernia, Recurrent respiratory infections, Diastasis recti, Supernumerary nipple OMIM:616579
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Craniosynostosis, Splenomegaly... ORPHA:667
Zttk Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Absent gallbladder, Depressed nasal bri... OMIM:617140
Andersen-Tawil Syndrome
Joint laxity, Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxill... ORPHA:37553
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Grange Syndrome
Syndactyly, Carotid artery stenosis, Renovascular hypertension, Finger clinodactyly, Renal artery... OMIM:602531
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Pituitary hypothyroidism, Abnormal epiphysis mo... ORPHA:90674
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Acne, Primary amenorrhea, Hypoplasia of the uterus, Cubitus valgus, Abnormal vagi... ORPHA:247768
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... ORPHA:2008
Ogden Syndrome
Congenital hip dislocation, Micrognathia, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:300855
Cerebrocostomandibular Syndrome
Tracheomalacia, Microcephaly, Kyphosis, Posterior rib gap, Bell-shaped thorax, Clinodactyly of th... ORPHA:1393
Lateral Meningocele Syndrome
Inguinal hernia, Micrognathia, Cryptorchidism, Meningocele, Umbilical hernia ORPHA:2789
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, Low-set ears, Short nose ORPHA:314655
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Hearing impairment, Micrognathia OMIM:256600
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Malabsorption, Abnormality of the pancreas, Anteriorly placed a... ORPHA:2315
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Pneumonia, Tapered finger, Cryptorchidism, Short finger, Decreased t... ORPHA:1867
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... OMIM:616430
Kyphoscoliotic Ehlers-Danlos Syndrome
Pes planus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand,... ORPHA:536545
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Absent frontal sinuses, Sensorineural hea... OMIM:154780
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Cartilage destruction, Recu... ORPHA:829
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Renal insufficiency, Ureteral stenosis, Proteinuria, Recurrent ... ORPHA:900
Vici Syndrome
Renal tubular acidosis, High palate, Ureteral atresia ORPHA:1493
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Limb joint contracture, Hydronephrosis OMIM:620327
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormality of the ... ORPHA:847
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... OMIM:114300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Posteriorly rotated ears, Proximal placement of thumb, Short sternum... OMIM:620113
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Oligosacchariduria, Cortical... ORPHA:309282
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis OMIM:264600
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Prolonged neonat... ORPHA:90673
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Pes planus, Inguinal hernia, Redundant umbilical skin, Patent ductus arteriosus, Aortic rupture, ... OMIM:614557
Houge-Janssens Syndrome 3
Umbilical hernia, Inguinal hernia, Single transverse palmar crease OMIM:618354
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Posteriorly rotate... OMIM:211380
Hydrolethalus Syndrome 1
Omphalocele, Accessory spleen, Hypospadias, Micrognathia, Bifid uterus, Preaxial hand polydactyly... OMIM:236680
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee ... OMIM:614976
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Hip dislocation OMIM:149400
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta OMIM:601216
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Large for gestational age, Macrotia, Sensorineural he... ORPHA:544488
Choanal Atresia
Subglottic stenosis, Polydactyly, Craniosynostosis ORPHA:137914
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Abnormality of the ureter, Brachydactyly ORPHA:1133
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Micrognathia, Precocious puberty, Cryptorchidism, Labial hypertrophy, Patent ductus... ORPHA:96191
Cohen-Gibson Syndrome
Coxa valga, Hypoplastic iliac wing, Long fingers, Cryptorchidism, Flexion contracture, Flared met... OMIM:617561
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Microcephaly, Pectus excavatum, Overfolded helix, Failure to thrive, Hydronephrosis ORPHA:488613
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Micr... OMIM:257300
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... OMIM:208000
Robinow Syndrome, Autosomal Dominant 3
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide nasal bridge, M... OMIM:616894
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Micrognathia, Microce... ORPHA:521426
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl... ORPHA:87
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Tibial bowing,... OMIM:259770
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Micrognathia, Met... OMIM:214110
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Adenoiditis, Abnormal form of the vertebral bodies, Otitis media, T... ORPHA:581
Williams Syndrome
Hypoplasia of penis, Abnormal cerebral vascular morphology, Micrognathia, Abnormal tubulointersti... ORPHA:904
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Patent ductus arteriosus, Single transverse palmar crease, Coarctation of aorta OMIM:615502
Loeys-Dietz Syndrome 4
Pes planus, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of th... OMIM:614816
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Split hand, Clubbing, Absent pulmonary art... OMIM:600460
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Osteopenia, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathi... OMIM:616007
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Inguinal hernia, Pes planus, Long foot, Bowing of the legs, R... OMIM:617107
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Subglottic stenosis, Broad jaw, Small for gestational age, Tapered finger, Micrognathia, Bulbous ... OMIM:614501
Gapo Syndrome
Prominent scalp veins, Hepatomegaly, Micrognathia, Retinal arteriolar tortuosity, Hypoplastic nip... OMIM:230740
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Neurogenic bladder, Hypospadias, Ur... ORPHA:573278
Waardenburg Syndrome Type 1
Mandibular prognathia, Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Wi... ORPHA:894
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Recurrent bronchiolitis, Coarctation of aorta OMIM:616069
Distal Deletion 3P
Inguinal hernia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Clinodactyly of the 5t... ORPHA:1620
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior ... OMIM:614008
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Dilation of Virchow-Robin spaces, Sandal gap, Rocker bottom foot, Single transvers... OMIM:619951
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micromelia, Micrognathia, Clinodact... ORPHA:199
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cryptorchidism, ... ORPHA:73246
Sotos Syndrome
Ureteral duplication, Flexion contracture, Pedal edema, Vesicoureteral reflux, Chronic otitis med... ORPHA:821
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti ORPHA:254534
Gm1-Gangliosidosis, Type I
Hepatomegaly, Thickened ribs, Short neck, Kyphosis, Splenomegaly, Depressed nasal ridge, Hypoplas... OMIM:230500
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Underfolded helix, Micr... OMIM:268400
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Posteriorly rotated ears, Craniosynostosis, Broad nasal tip, Micrognathia... OMIM:309590
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... ORPHA:306542
X-Linked Intellectual Disability, Pai Type
Recurrent respiratory infections, Inguinal hernia, Tapered finger, Cryptorchidism, Hydrocele testis ORPHA:85322
Distal Deletion 19P
Long toe, Vaginal hernia, Arachnodactyly, Keloids, Umbilical hernia ORPHA:96129
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Mixed hearing impairment, Depressed nasal bridge, Cranio... ORPHA:1299
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Chromosome 13Q14 Deletion Syndrome
Inguinal hernia, Overlapping toe, Single transverse palmar crease, Supernumerary nipple, Microgna... OMIM:613884
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Micrognathia, Joint hyperflexibility, Macrocephaly, Short nose, Macr... ORPHA:109
Ablepharon-Macrostomia Syndrome
Short metacarpal, Toe syndactyly, Microtia, third degree, Abnormal nasal morphology, Cutaneous fi... OMIM:200110
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... OMIM:300963
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defect... OMIM:618175
Scimitar Syndrome
Recurrent respiratory infections, Anomalous origin of left coronary artery from the pulmonary art... ORPHA:185
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive clavicula... OMIM:608612
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Umbilical hernia, Inguinal hernia, Knee contracture, Elbow contracture OMIM:620275
Mandibuloacral Dysplasia Progeroid Syndrome
Micrognathia, Palmoplantar hyperkeratosis, Macrovesicular hepatic steatosis, Hepatomegaly, Depres... OMIM:619127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Micrognathia, Microcephaly, Congenital contracture, Microtia, Atresia of the external auditory ca... OMIM:236670
Arterial Tortuosity Syndrome
Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Femoral hernia, Hiatus hernia, Pulmona... ORPHA:3342
Mohr Syndrome
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Bifid nasal tip... OMIM:252100
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Hypogonadism, Esophagitis, Umbilical hernia, Adducted thumb ORPHA:79351
Incontinentia Pigmenti
Finger syndactyly, Skin rash, Camptodactyly of finger, Abnormal dental enamel morphology, Supernu... ORPHA:464
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... OMIM:203500
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... ORPHA:456328
Lumbar Syndrome
Bifid scrotum, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeni... ORPHA:83628
Trichothiodystrophy
Congenital exfoliative erythroderma, Multiple joint contractures, Eczema, Hypoplasia of mandible ... ORPHA:33364
Distal Deletion 15Q
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous... ORPHA:1596
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Flexion contracture, Low-se... OMIM:147791
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, Congenital lobar overinflation, 2-3 toe syndactyly, C... OMIM:600987
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Overhanging nasal tip OMIM:619142
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Hypospadias, Repeated pn... OMIM:617602
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow... OMIM:209900
Maternal Uniparental Disomy Of Chromosome 2
Pes planus, Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response... ORPHA:96179
Microphthalmia, Syndromic 2
Broad hallux, Sandal gap, Hypospadias, Septate vagina, Cryptorchidism, 2-3 toe cutaneous syndacty... OMIM:300166
Early Infantile Epileptic Encephalopathy
Precocious puberty, Short finger, Broad finger, Ureterocele, Umbilical hernia, Micropenis, Renal ... ORPHA:1934
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious teeth, Sten... OMIM:129400
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Ulnar deviation of finger, Talipes equi... ORPHA:1101
Non-Syndromic Posterior Hypospadias
Omphalocele, Bifid scrotum, Congenital diaphragmatic hernia, Cryptorchidism, Ventral shortening o... ORPHA:95706
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Uterine rupture, Em... OMIM:130050
Cadds
Short nose, Sensorineural hearing impairment, Micrognathia ORPHA:369942
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Hypoplasia of penis, Femoral hernia, Renal insufficiency, Cryptorchidism, Tetral... ORPHA:96147
Cowden Syndrome 5
Hypoplasia of the maxilla, Progressive macrocephaly, Hearing impairment, Micrognathia OMIM:615108
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Microcephaly, Absent nasal septal cartilage, Wide ... OMIM:610828
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Hepatomegaly, Aortopulmonary collateral arteries, Micrognath... OMIM:620025
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla ORPHA:3044
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Mi... OMIM:614437
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Syndactyly, Prominent superficial veins, Small scrotum, Abse... OMIM:612289
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Recurrent respiratory infections, Diastasis recti, Limited wris... ORPHA:576
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, ... ORPHA:1865
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, Emphysema, Micr... OMIM:619472
Icf Syndrome
Umbilical hernia, Recurrent respiratory infections, Micrognathia ORPHA:2268
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Flexi... ORPHA:217085
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, High palate, Uric acid nep... OMIM:300661
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat... OMIM:618651
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadi... OMIM:617053
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Asplenia, Biliary atresia, Dextrotransposition of the great arteries,... OMIM:306955
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sandal gap, Choanal atresia, Micrognathia, Long nose, Microce... OMIM:251260
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Decreased liver function, Ureterocele OMIM:614863
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Micrognathia, Carious teeth,... OMIM:244450
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Williams-Beuren Syndrome
Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Clinodactyly of the 5th finger, Mic... OMIM:194050
Recombinant 8 Syndrome
Small scrotum, Camptodactyly of finger, Abnormality of the kidney, Micrognathia, Cryptorchidism, ... ORPHA:96167
Lathosterolosis
Anteverted nares, Micrognathia, Microcephaly, Bulbous nose, Biparietal narrowing, Short nose, Hea... ORPHA:46059
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Flexi... ORPHA:217093
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Micrognathia, Patent ductus arteriosus, Abnormal aortic morphology, Clinodactyly of the 5th finge... ORPHA:2001
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Micrognathia, Osteolysis, Osteolytic defects of the di... ORPHA:90154
Hypermobile Ehlers-Danlos Syndrome
Pes planus, Inguinal hernia, Abnormality of the menstrual cycle, Elbow dislocation, Venous insuff... ORPHA:285
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Short nose, Micrognathia ORPHA:496790
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Hematuria, Varicose veins, Infertil... ORPHA:71273
Cowden Syndrome 6
Hypoplasia of the maxilla, Progressive macrocephaly, Hearing impairment, Micrognathia OMIM:615109
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Geleophysic Dysplasia 1
Osteopenia, Anteverted nares, Camptodactyly of finger, Joint stiffness, Thickened helices, Short ... OMIM:231050
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, H... ORPHA:570
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Overfolded heli... ORPHA:1974
Chops Syndrome
Anteverted nares, Thickened helices, Microcephaly, Tracheomalacia, Cervical C2/C3 vertebral fusio... OMIM:616368
Lathosterolosis
Anteverted nares, Micrognathia, Microcephaly, Osteoporosis, Wide nasal bridge, Conductive hearing... OMIM:607330
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Cryptorchidism, Splenomegaly, Elbow flexion contracture, Hypercalci... OMIM:618440
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Paten... ORPHA:860
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryp... OMIM:618280
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Coarctation of aort... OMIM:606003
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Osteoarthritis, Periodontitis, Uterine rupture, Peripheral arterioven... ORPHA:286
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Microcephaly, Bulbous nose, Wide nasal bridge, Short nose, Progressive... OMIM:615803
Turner Syndrome Due To Structural X Chromosome Anomalies
Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Gastrointestinal inflammation, Infl... ORPHA:99413
Mosaic Monosomy X
Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Gastrointestinal inflammation, Infl... ORPHA:99228
Monosomy X
Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Gastrointestinal inflammation, Infl... ORPHA:99226
Microphthalmia, Syndromic 1
Syndactyly, Hydroureter, Hypospadias, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Re... OMIM:309800
Turner Syndrome
Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Gastrointestinal inflammation, Infl... ORPHA:881
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... ORPHA:261537
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Short nose, Contracture of the proximal interphalangeal joint of the 4th toe, Macro... ORPHA:457279
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Micrognathia, Persistence of primary teeth, Pectus excavatum, Macrotia, Proximal re... ORPHA:2785
Crane-Heise Syndrome
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ... ORPHA:1512
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Shor... OMIM:224410
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Short nose, Joint hemorrhage, Epistaxis OMIM:277450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Microcephaly, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Short nose OMIM:614207
Gabriele-De Vries Syndrome
Hallux valgus, Small for gestational age, Sandal gap, Craniosynostosis, Micrognathia, Sydney crea... ORPHA:506358
Chromosome 18P Deletion Syndrome
Toe syndactyly, Micrognathia, Cryptorchidism, Coxa vara, Gonadal dysgenesis, High palate, Radial ... OMIM:146390
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis... OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Sandal gap, Posteriorly rotated ears, Short neck, Broad nasal tip, Long fi... OMIM:620330
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares ORPHA:228384
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Micrognathia, Microcephaly, Wide nasal bridge, Low-set ears, Short nose OMIM:613457
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... ORPHA:1791
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Joint stiffness, Micrognathia, Protruding ear, Secondary microcephaly,... OMIM:618820
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, High, narrow palate ORPHA:457212
Methimazole Embryofetopathy
Abnormal aortic morphology, Hypospadias, Coarctation of aorta ORPHA:1923
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Coarctation ... OMIM:217085
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Decreased response to growth hormone ... ORPHA:226307
Aniridia-Absent Patella Syndrome
Cryptorchidism, Inguinal hernia, Aplasia/Hypoplasia of the patella ORPHA:1069
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Treacher Collins Syndrome 1
Choanal atresia, Micrognathia, Microtia, Atresia of the external auditory canal, Conductive heari... OMIM:154500
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Elevated circulating luteinizing horm... ORPHA:99429
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilater... OMIM:308205
Dend Syndrome
Short nose, Anteverted nares, Thickened ears ORPHA:79134
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Hearing impairment, Abnormal preputium morphology, Ab... ORPHA:2907
Genetic Transient Congenital Hypothyroidism
Umbilical hernia, Prolonged neonatal jaundice, Thyroid hypoplasia, Goiter ORPHA:226316
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Micrognathia, Malabsorption, Cryptorchidism, Ambiguou... ORPHA:452
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, 2-3 finger syndactyly, Hamartoma of tongue ORPHA:1338
Atypical Werner Syndrome
Short palm, Renal neoplasm, Rocker bottom foot, Micrognathia, Abnormal thorax morphology, Osteoly... ORPHA:79474
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Primrose Syndrome
Hip contracture, Calcification of the auricular cartilage, Anteverted nares, Depressed nasal brid... OMIM:259050
3Mc Syndrome 3
Bifid scrotum, Diastasis recti, Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Micropeni... OMIM:248340
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Hydrolethalus
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate... ORPHA:2189
Esophageal Atresia
Subglottic stenosis, Failure to thrive in infancy, Small for gestational age, Renal agenesis, Cho... ORPHA:1199
Microphthalmia, Syndromic 3
Vertebral fusion, Frontal bossing, Missing ribs, Microcephaly, Sensorineural hearing impairment, ... OMIM:206900
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Prolidase Deficiency
Short nose, Concave nasal ridge, Depressed nasal bridge, Micrognathia OMIM:170100
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Microcephaly, Sensorineural hearing impairment, Limitat... ORPHA:2719
Mowat-Wilson Syndrome
Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... ORPHA:2152
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Coffin-Siris Syndrome
Delayed eruption of teeth, Joint laxity, Depressed nasal bridge, Anteverted nares, Broad nasal ti... ORPHA:1465
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Inflammatory abnormality of the skin, Ec... ORPHA:391487
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose OMIM:613038
Restrictive Dermopathy
Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Multiple joint contractures, Hypospadi... ORPHA:1662
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Stapes ankylosis, Depressed nasal br... OMIM:614188
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... OMIM:225400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hemivertebrae, Femoral bowing, Choanal stenosis, Conductive hearing impairment, Micropenis, Simpl... OMIM:201750
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Thickened helices, Sagittal craniosynostosis, Posteri... OMIM:609942
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Pes cavus, Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidis... OMIM:308700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... ORPHA:261552
Restrictive Dermopathy 1
Ureteral duplication, Limb joint contracture, Rocker bottom foot, Hypospadias, Micrognathia, Pate... OMIM:275210
Acrocephalopolydactylous Dysplasia
Low-set ears, Short nose, Abnormal pinna morphology, Craniosynostosis OMIM:200995
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia OMIM:614170
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Short nose ORPHA:280200
Pontine Tegmental Cap Dysplasia
Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Cowden Syndrome 1
Hypoplasia of the maxilla, Progressive macrocephaly, Hearing impairment, Micrognathia OMIM:158350
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Knee dislocation, Hepatic fibrosis, Intrahepatic bile duct dilatat... OMIM:619534
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Secondary microcephaly OMIM:105830
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch... ORPHA:99050
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate... OMIM:606851
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Abnormal toe morphology, Precocious puberty, Abnormal finger morphology, Horse... OMIM:163200
Mucopolysaccharidosis Type 2
Hepatomegaly, Inguinal hernia, Splenomegaly, Recurrent upper respiratory tract infections, Periph... ORPHA:580
Sirenomelia
Absence of the sacrum, Renal hypoplasia/aplasia, Sirenomelia, Aplasia/Hypoplasia of the radius, A... ORPHA:3169
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Joint laxity, Anteverted nares, Broad nasal tip, Hypoplasia of the maxilla... OMIM:617402
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormality of the kidney, Abnormal stomach morphology, Ascending aorta hypo... ORPHA:141127
Stickler Syndrome
Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Micrognathia, Hypopl... ORPHA:828
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Low-set, posteriorly rotated ears, Anteverted nares, Craniosynostosis, Broad nasal ti... ORPHA:363611
Trisomy 8Q
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cryptorchidism, Myelomeningocele, Cle... ORPHA:1752
Renal And Mullerian Duct Hypoplasia
Short nose, Micrognathia OMIM:266810
Right Atrial Isomerism
Inguinal hernia, Aortopulmonary collateral arteries, Asplenia, Abnormal lung lobation, Total anom... OMIM:208530
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Flexion contracture, Thin ribs OMIM:614833
Pallister-Killian Syndrome
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Congenital diaphragma... OMIM:601803
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Anteverted nares, Limited elbow movement, Micrognathia, Long nose, Cranio... ORPHA:508533
Isolated Cleft Lip
Chronic otitis media, Umbilical hernia, Talipes equinovarus ORPHA:199302
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Posteriorly rotated ears, Microcephaly, Overfolded helix, Camp... OMIM:301044
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Broad hallux, Single transverse palmar crease, Micrognathia, Clinodactyly of the... OMIM:617062
Holoprosencephaly
Encephalocele, Omphalocele, Hypoplasia of penis, Proteinuria, Talipes, Congenital diaphragmatic h... ORPHA:2162
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Small scrotum, Abnormal dent... ORPHA:3253
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Aortopulmonary collateral arteries ORPHA:293181
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Abnormality of the ear, Macrocephaly, Short nose, Hearing impairment ORPHA:3339
Knobloch Syndrome
Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus, Vesicoureteral reflux, Bifid... ORPHA:1571
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Microlissencephaly-Micromelia Syndrome
Short nose, Secondary microcephaly ORPHA:50810
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis,... ORPHA:397
Ring Chromosome 7 Syndrome
Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Microcephaly, Pro... ORPHA:1449
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism... OMIM:615849
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Long fingers, Cryptorchidism, Coronary artery f... OMIM:614294
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... ORPHA:209902
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Coarctation of aorta, N... OMIM:614300
Larsen Syndrome
Finger syndactyly, Cryptorchidism, Accessory carpal bones, Cleft palate, Abnormal epiphysis morph... ORPHA:503
Craniorachischisis
Bifid sternum, Sirenomelia ORPHA:63260
Perlman Syndrome
Nephrogenic rest, Renal hamartoma, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism,... OMIM:267000
Wiedemann-Steiner Syndrome
Microcephaly, Wide nasal bridge, Low-set ears, Hyperextensibility at elbow, Short nose ORPHA:319182
Tolchin-Le Caignec Syndrome
Arachnodactyly, Diastasis recti, Micrognathia, Precocious puberty, Clinodactyly of the 5th finger... OMIM:618971
Larsen Syndrome
Short metacarpal, Spatulate thumbs, Elbow dislocation, Cryptorchidism, Talipes equinovalgus, Disl... OMIM:150250
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Hiatus hernia, Micrognathia, Hip disloc... OMIM:617729
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Micrognathia, Carious teeth, Prominent nose, Broad nasal t... ORPHA:177907
Myofibrillar Myopathy 11
Calf muscle hypertrophy, Coarctation of aorta OMIM:619178
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Flaring of rib cage, Broad ribs OMIM:612852
Neurooculorenal Syndrome
Subglottic stenosis, Hypoplasia of the bladder, Mixed hearing impairment, Unilateral renal agenes... OMIM:620305
Maternal Phenylketonuria
Bifid distal phalanx of the thumb, Micrognathia, Abnormal renal morphology, Double outlet right v... ORPHA:2209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Hydronephro... OMIM:615287
Witteveen-Kolk Syndrome
Glue ear, Uplifted earlobe, Protruding ear, Thickened helices, Hyperplasia of the maxilla, Micror... OMIM:613406
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Diastasis recti, Hepatoblastoma, Cry... OMIM:130650
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Extrahepatic cholestasis, Hepatic failure, Hyd... ORPHA:100078
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism, Decreased palmar creases... ORPHA:2232
Kabuki Syndrome 2
Micrognathia, Hip dislocation, Horseshoe kidney, Coarctation of aorta, Short 5th finger, Recurren... OMIM:300867
Persistent Müllerian Duct Syndrome
Cryptorchidism, Inguinal hernia, Male pseudohermaphroditism ORPHA:2856
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Micrognathia, Long fingers, Atypical scarring of skin, Varicose veins, Atrophi... OMIM:618343
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Transient ischemic attack, Patent ductus arteriosus, Anomalous ... ORPHA:1330
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Abnormal cerebral vas... ORPHA:363705
Autosomal Dominant Cutis Laxa
Pes planus, Inguinal hernia, Genu recurvatum, Unilateral renal agenesis, Dilatation of the ventri... ORPHA:90348
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Coarctation of aorta OMIM:618929
Marfan Syndrome
Pes planus, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited e... ORPHA:558
Knobloch Syndrome 1
Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus... OMIM:267750
Thyroid Ectopia
Umbilical hernia, Jaundice, Ectopic thyroid ORPHA:95712
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Brachydactyly OMIM:616954
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Multicystic kidney dysplasia, Vaginal neoplasm, Micrognathia, Abnormal lung ... ORPHA:1052
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Small scrotum, Anterior pituitary hypoplasia, Micrognathia, Cr... ORPHA:264200
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Osteopetrosis, Increased head circumference OMIM:612301
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Pes planus, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Rena... OMIM:617260
Degcags Syndrome
Osteopenia, Anteverted nares, Prominent nasal bridge, Craniosynostosis, Prominent nose, Micrognat... OMIM:619488
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Calcaneovalgus deformity, Finger syndactyly, Spina bifida, Bifid uterus... OMIM:256520
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Dysmenorrhea, Elevated circulating luteinizing hormone lev... ORPHA:90796
Dyskeratosis Congenita
Recurrent fractures, Hearing impairment, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, ... ORPHA:1775
Holoprosencephaly 3
Bifid uvula, Hydronephrosis, Cleft palate OMIM:142945
Autosomal Dominant Centronuclear Myopathy
Macrocephaly at birth, Thin ribs ORPHA:169189
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Micrognathia, Underdeveloped nasal alae, Low insertion ... OMIM:619005
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Cartilage destruction, Pustule, Enthesit... ORPHA:29207
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Perip... ORPHA:391665
Johanson-Blizzard Syndrome
Single transverse palmar crease, Hepatic fibrosis, Clinodactyly of the 5th finger, Hypoplasia of ... OMIM:243800
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Subglottic stenosis, Toe syndactyly, Posteriorly rotated ears, Asplenia, Low-set ears, Bilateral ... OMIM:619657
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Loeys-Dietz Syndrome
Pes planus, Aortic dissection, Arachnodactyly, Camptodactyly of finger, Micrognathia, Arterial to... ORPHA:60030
Marfan Syndrome
Genu recurvatum, Equinus calcaneus, Micrognathia, Incisional hernia, Flexion contracture, Narrow ... OMIM:154700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Anomalous origin of left subclavian artery, Abnormality of th... ORPHA:438213
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis, Anteverted nares ORPHA:238468
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont... OMIM:305100
Double Outlet Right Ventricle
Hypoparathyroidism, Double outlet right ventricle, Coarctation of aorta, Pulmonary artery atresia... ORPHA:3426
Neurofibromatosis, Type I
Spina bifida, Tibial pseudarthrosis, Genu valgum, Pheochromocytoma, Renal artery stenosis, Parath... OMIM:162200
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Microcephaly, Macrocephaly OMIM:252160
X-Linked Intellectual Disability, Armfield Type
Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Abnormality of the elbow... ORPHA:85276
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microcephaly, Wide nasal bridge, Narro... OMIM:617157
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Carious teeth, Cupped ... OMIM:615873
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Microcephaly, Macrocephaly OMIM:252150
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Microcephaly, Supernumerary t... ORPHA:268261
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Proboscis Lateralis
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis, Duplication of renal pelv... ORPHA:141099
Pseudo-Torch Syndrome 2
Microcephaly, Thin ribs OMIM:617397
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Patent ductus arteriosus, ... ORPHA:980
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Nephrolithiasis, Periodontitis, Abnormal fallopian tube morphology, A... ORPHA:722
Deeah Syndrome
Low-set ears, Prominent nasal tip, Short nose, Retrognathia, Hearing impairment OMIM:619004
Noonan Syndrome 2
Abnormal coronary artery origin, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Coarctat... OMIM:605275
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Abdominal situs inversus, Pulmonary artery... OMIM:617205
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ... OMIM:229400
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Noonan Syndrome 10
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Palmoplantar cutis laxa, Cubitus ... OMIM:616564
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Osteomyelitis, Anteverted nares, Microcephaly, Bulbous nose, Cupped ear, Wide nasal... OMIM:619475
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, Stroke, Aort... OMIM:175050
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Subarachnoid hemorrhage, Cerebral hemorrhage, Diffuse alveolar h... ORPHA:90068
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Arterial calcification, Medial calcification of large arteries, Transien... ORPHA:51608
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Hip co... OMIM:619503
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Thyroid hypoplasia, Ectopic thyroid, Goiter OMIM:218700
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
17Q11 Microdeletion Syndrome
Bowing of the legs, Precocious puberty, Abnormal internal carotid artery morphology, Abnormal lun... ORPHA:97685
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Pes planus, Genu recurvatum, Tapered f... OMIM:619539
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Noonan Syndrome 1
Male infertility, Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Synovitis,... OMIM:163950
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Bacterial endocarditis, Coarctation o... ORPHA:3092
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Prominent nasal tip, Short nose, Progressive flexion contractures ORPHA:522077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Flexion contracture, Convex nasal ridge, Microcephaly OMIM:619321
Geleophysic Dysplasia 2
Short nose, Limitation of joint mobility, Joint stiffness OMIM:614185
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic r... OMIM:617506
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Tapered finger, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctati... OMIM:619480
Oculoectodermal Syndrome
Transient ischemic attack, Supernumerary nipple, Lower limb asymmetry, Patent ductus arteriosus, ... OMIM:600268
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Flexion contracture, Joint stiffness ORPHA:505248
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Pes planus, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single tran... OMIM:612474
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Interrupted ao... ORPHA:2396
Singleton-Merten Syndrome 1
Osteopenia, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Osteolytic defects of the pha... OMIM:182250
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Micrognathia, Microvesicular hepatic steatosis, Coarctat... OMIM:220111
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Rectoperineal fistula, Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Wide nasal bridge OMIM:180500
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Short nose, Tinnitus, Narrow nasal ridge OMIM:606721
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor... ORPHA:2299
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Hepatomegaly, Pulmonary artery stenosis, Patent ductus arterios... ORPHA:99125
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Coarctation of aorta OMIM:620066

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 Bmp5

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 Bmp5.

No publications found that use IMPC mice or data for Bmp5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bmp5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Bmp5tm40549(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bmp5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bmp5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bmp5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bmp5em1(IMPC)Bay Exon Deletion Mice

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