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Gene: Slmap MGI:1933549

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Gene Summary

Name:
sarcolemma associated protein
Synonyms:
Miranda,  D330001L02Rik,  Slap

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal head size Slmapem1(IMPC)J HOM E18.5 0.00
cleft palate Slmapem1(IMPC)J HOM E18.5 0.00
abnormal limb morphology Slmapem1(IMPC)J HOM E18.5 0.00
abnormal tail morphology Slmapem1(IMPC)J HOM E18.5 0.00
abnormal head shape Slmapem1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Slmapem1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Slmapem1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

6 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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Gross Morphology Embryo E14.5-E15.5

Images

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Slmap mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome
ORPHA:130

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Adenylosuccinate Lyase Deficiency
Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microcephaly, Flat occiput ORPHA:46
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Isolated Dandy-Walker Malformation
Prominent occiput, Encephalocele, Platybasia, Frontal bossing, Cleft palate ORPHA:217
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Hallux varus, L... OMIM:612961
Parc Syndrome
Cleft palate OMIM:600331
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, High palate, Narrow mouth, Microcephaly ORPHA:2528
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion OMIM:309545
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Microcephaly, Craniosynostosis, Cleft... OMIM:600252
Clark-Baraitser Syndrome
Downturned corners of mouth, Long philtrum, Clinodactyly, Sandal gap, Exaggerated cupid's bow, Th... OMIM:617752
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Sporadic Fetal Brain Disruption Sequence
Microcephaly, Plagiocephaly, Prominent occiput ORPHA:1665
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Downturned corners of mouth, Ectopic anus, Aplasia/Hypoplasia of the distal phalan... ORPHA:94066
Aminopterin Syndrome Sine Aminopterin
Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth retardation, Oligodontia, Arachn... OMIM:600325
Non-Distal Duplication 10Q
Microcephaly, Brachycephaly, Everted lower lip vermilion, High palate, Frontal bossing ORPHA:1695
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Microcephaly, Craniosynostosis, High palate, C... OMIM:201550
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Brachydactyly, Metacarpal synostosis ORPHA:35099
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Narrow mouth, Oligodontia, Arachno... ORPHA:251019
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Potocki-Shaffer Syndrome
Downturned corners of mouth, Parietal foramina, Turricephaly, Brachycephaly, 2-5 finger cutaneous... OMIM:601224
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Bra... OMIM:604757
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Kleefstra Syndrome 2
Bifid uvula, Microcephaly, Plagiocephaly, Everted lower lip vermilion OMIM:617768
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr... OMIM:614416
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Brachycephaly, Tented upper lip vermilion, Long philtrum OMIM:619972
Cornelia De Lange Syndrome 2
Small hand, Downturned corners of mouth, Clinodactyly, Intrauterine growth retardation, Thin uppe... OMIM:300590
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Pierpont Syndrome
Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Thin upper lip vermilion,... ORPHA:487825
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Bifid uvula, Small hand, Cleft lip, Plagiocephaly, Downturned corners of mouth, Long philtrum, Cl... OMIM:618089
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Turricephaly, Brachycephaly, Brac... ORPHA:2145
Gómez-López-Hernández Syndrome
Thin vermilion border, Brachycephaly, Turricephaly ORPHA:1532
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal... OMIM:616602
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Dee... OMIM:605282
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Tooth malposition, Plagiocephaly, Microcephaly, Brachycephaly, High palate, Cleft palate OMIM:618603
Craniofrontonasal Dysplasia
Abnormality of the dentition, Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of fing... ORPHA:1520
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology... ORPHA:1387
Parietal Foramina 1
Parietal foramina, Cleft palate, Encephalocele, Cleft upper lip OMIM:168500
Pierpont Syndrome
Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Prominent median palatal ... OMIM:602342
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Thin upper lip vermilion, Brachycephaly, Craniosynostosis, High palate, Frontal bossing, Pyloric ... ORPHA:314575
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Broad thumb, Widely spaced teeth, Premature loss of primary teeth, ... OMIM:617364
6Q25 Microdeletion Syndrome
Plagiocephaly, Long philtrum, Camptodactyly of finger, Microcephaly, Clinodactyly of the 5th fing... ORPHA:251056
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Microcephaly, Brachycephaly, Dee... OMIM:615834
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Intestinal malrotation, Microcephaly, Orofacial cleft, Deep philtrum, Incomplete c... ORPHA:77300
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Dental crowding, Frontal bossing OMIM:619264
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Micr... OMIM:300882
Chopra-Amiel-Gordon Syndrome
Cleft lip, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microcephaly, Short philtrum... OMIM:619504
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Plagiocephaly, Syndactyly, Tapered finger OMIM:618725
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Everted lower lip vermilion, Short philtrum, Cleft palate OMIM:616898
Intellectual Developmental Disorder, Autosomal Dominant 74
Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microc... OMIM:620688
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Brachycephaly OMIM:620200
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Downturned corners of mouth, Long philtrum, Trigonocephaly, Intrauterine growth ret... OMIM:613792
Pontocerebellar Hypoplasia, Type 3
High, narrow palate, Downturned corners of mouth, Long philtrum, Brachycephaly, Progressive micro... OMIM:608027
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Brachycephaly, High palate, Dolichocephaly, Short philtrum, Proximal placement of ... OMIM:615433
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Downturned corners of mouth,... ORPHA:1327
Vulto-Van Silfhout-De Vries Syndrome
2-3 toe cutaneous syndactyly, Prominent fingertip pads, Thick lower lip vermilion, Tented upper l... OMIM:615828
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Small hand, Plagiocephaly, Downturned corners of mouth, Prominent occiput, Dolichocephaly, Brachy... OMIM:618672
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Brachyturricephaly, Cle... OMIM:607597
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Long philtrum, Narrow mouth, Arachnodactyly, Talipes equinovarus, Brachycephaly,... OMIM:615539
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Microcephaly, Brachycephaly, Dental crowding ORPHA:320385
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Brachydactyly, Craniosynostosis,... OMIM:618265
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly, Deep philtrum, Downturned corners of mouth OMIM:618859
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Intrauterine growth retardation, Open mouth, Thin upper lip vermilion, Smooth phil... OMIM:616801
Potocki-Shaffer Syndrome
Brachycephaly, Short philtrum, Downturned corners of mouth, Parietal foramina ORPHA:52022
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Microcephaly, Brachycephaly, Clinodactyly ... ORPHA:352530
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Clinodactyly, Long philtrum, Unilambdoid synostosis, Brachycephaly, Broad philtrum OMIM:618577
Summitt Syndrome
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Bra... ORPHA:3210
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxillary central... ORPHA:66625
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly, High palate OMIM:618774
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Downturned corners of mouth, Long philtrum, Sand... OMIM:615761
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Brachycephaly, Everted lower lip vermilion, Short foot ORPHA:228399
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate OMIM:300958
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Microcephaly, Brachycephaly, Dental crowding OMIM:615031
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microc... OMIM:615419
Pentasomy X
Small hand, Plagiocephaly, Camptodactyly of finger, Radioulnar synostosis, Microcephaly, Clinodac... ORPHA:11
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Unilateral cleft lip, Abnormal thumb morphology, Microcephaly, Brachycephaly, Abnormal metacarpal... ORPHA:2511
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Clinodactyly, Frontal bossing, Open mouth, Talipes equinovarus, Brachycephaly, Eve... OMIM:616789
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Developmental And Epileptic Encephalopathy 65
Microcephaly, Plagiocephaly, Tented upper lip vermilion OMIM:618008
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Plagiocephaly, Prominent fingertip pads, Long philtrum, Short thumb... OMIM:618821
Coffin-Siris Syndrome 6
High, narrow palate, Plagiocephaly, Clinodactyly, Deep philtrum, Brachydactyly, Short philtrum, F... OMIM:617808
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Plagiocephaly, Prominent fingertip pads, Long philtrum, Genu valgum, Arachnodactyly,... OMIM:619721
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Talipes equinovarus, Narrow palate, Plagiocephaly, Microcephaly OMIM:617481
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Intrauterine growth retardation, Overlapping fingers, Post... OMIM:618142
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Frontal bo... ORPHA:163649
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Downturned corners of mouth, Tooth agenesis, Macrodontia, Microcephaly, Short phil... OMIM:618731
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Microcephaly, Brachycephaly, Spina bifida occu... OMIM:618736
Diprosopus
Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
2Q23.1 Microdeletion Syndrome
Sandal gap, Macrodontia, Tented upper lip vermilion, Open mouth, Microcephaly, Brachycephaly, Eve... ORPHA:228402
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Plagiocephaly, Frontal bossing, Oligodontia OMIM:618330
Lujan-Fryns Syndrome
Abnormality of the dentition, Dental crowding, Camptodactyly of finger, Arachnodactyly, Brachycep... ORPHA:776
German Syndrome
Camptodactyly of finger, Open mouth, Orofacial cleft, Brachycephaly, Everted lower lip vermilion,... ORPHA:2077
Intellectual Developmental Disorder, Autosomal Recessive 38
Narrow palate, Plagiocephaly, Sandal gap OMIM:615516
Aica-Ribosiduria
Thin upper lip vermilion, Brachycephaly, Wide mouth ORPHA:250977
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Carpal synostosis, Brachycephaly, T... ORPHA:53271
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Skull asymmetry, Intestinal malrotation, Submucous c... OMIM:614701
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Micromelia, Camptodactyly of finger, Brachycephaly, ... ORPHA:1784
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Long philtrum, Umbilical hernia, Turricephaly, Bowing of the long bones, Radiouln... ORPHA:171839
Pseudodiastrophic Dysplasia
Rhizomelia, Smooth philtrum, Talipes equinovarus, Phalangeal dislocation, Brachycephaly, Camptoda... OMIM:264180
Frontonasal Dysplasia 3
Tessier cleft, Brachycephaly, Cleft palate OMIM:613456
Grant Syndrome
Open bite, Abnormal palate morphology, Bowing of the long bones, Brachycephaly, Frontal bossing ORPHA:2097
Kury-Isidor Syndrome
Finger syndactyly, Long philtrum, Widely spaced teeth, Frontal bossing, Tented upper lip vermilio... OMIM:619762
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Intrauterine growth retard... ORPHA:228390
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Tented upper lip vermilion, Smooth philtrum, Brachycephaly, Progressive microcephaly, Microcephaly OMIM:620240
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Coarse metaphyseal trabecularization, Delayed eruption of teeth... ORPHA:2780
Tetraploidy
Radial club hand, Intrauterine growth retardation, Microcephaly, Short philtrum, Biparietal narro... ORPHA:3305
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Anal atresia, Microcephaly ORPHA:93950
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Brachyda... ORPHA:93262
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Thin upper lip vermilion, Microcephaly, Brachycephaly, High palate OMIM:618862
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Camptodactyly of finger, Intrauterine growth retardation, Brachycephaly, Dolichoce... ORPHA:272
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Hypodontia, Brachycephaly, Microce... ORPHA:1598
Larsen-Like Syndrome
Dental malocclusion, Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Bipa... OMIM:608545
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... ORPHA:2633
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t... ORPHA:93258
Schisis Association
Unilateral cleft lip, Micromelia, Encephalocele, Microcephaly, Tracheoesophageal fistula, Spina b... ORPHA:63862
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Lessel-Kreienkamp Syndrome
Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Thin upper lip vermilion, Clinodac... OMIM:619149
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Thick lower lip vermilion, Secondary m... OMIM:179613
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Microcephaly, Short foot, Plagiocephaly, Short palm OMIM:614563
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Toe syndactyly, Broad thumb, Flat occiput, Long philtrum, Intrauterine growth retardation, Overla... ORPHA:505237
Fetal Trimethadione Syndrome
Brachycephaly, Intrauterine growth retardation, Microcephaly, High palate ORPHA:1913
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Plagiocephaly, Broad hallux, Tented upper lip vermilion, Anterior plagiocephaly, A... OMIM:614749
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Broad thumb, Flat occiput, Long philtrum, Intrauterine growth retardation, Overlapping toe, Thin ... OMIM:617452
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Abnormal lip morphology, Abnormal upper lip morphology, Microdontia, Arachno... ORPHA:2707
Al Kaissi Syndrome
High, narrow palate, Small hand, Clinodactyly, Long philtrum, Macrodontia, Intrauterine growth re... OMIM:617694
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Toe syndactyly, Broad thumb, Downturned corners of mouth, Long philtrum, Plagiocephaly, Frontal b... OMIM:619720
Enlarged Parietal Foramina
Cleft lip, Occipital encephalocele, Broad thumb, Parietal foramina, Myelomeningocele, Craniosynos... ORPHA:60015
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Tooth agenesis, Abnormal femur morphology, Abnormal palate morphology, Multiple un... ORPHA:2063
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly, Small hand, Tented upper lip vermilion, Microcephaly, High palate OMIM:620149
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Talipes equinovarus, Brachycephaly, Microcephaly, Brachydactyly, High palate,... ORPHA:3306
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Aganglionic megacolon, Microcephaly, Postaxial ha... ORPHA:85284
Achard Syndrome
Arachnodactyly, Brachycephaly, Broad skull OMIM:100700
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Abnormal digit morphology, Microcephaly, Brachycephaly, Spina bifida occulta, Cl... OMIM:268850
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly, Thick vermilion border OMIM:619927
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Downturned corners of mouth, Sandal gap, Tented upper lip vermilion, Open mouth, T... OMIM:618430
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Downturned corners of mouth, Clinodactyly, Umbilical hernia, Widely spaced teeth, ... ORPHA:369891
Trisomy 9P
Dental crowding, Downturned corners of mouth, Impacted tooth, Microcephaly, Brachycephaly, Brachy... ORPHA:236
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Brachycephaly OMIM:615985
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly OMIM:612247
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Microcephaly, Brachycephaly OMIM:309541
Antley-Bixler Syndrome
Long philtrum, Camptodactyly of finger, Femoral bowing, Narrow mouth, Turricephaly, Arachnodactyl... ORPHA:83
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia, Open mouth, Tented upper lip vermilion, Thin upper lip vermilion... OMIM:616579
Chromosome 5P13 Duplication Syndrome
Downturned corners of mouth, Turricephaly, Brachycephaly, Long fingers, High palate, Large hands,... OMIM:613174
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Brachycephaly, Wide mouth, Thick vermilion border ORPHA:85290
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Small hand, Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Tented upper lip ver... ORPHA:371364
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Long philtrum, Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Microcephaly, ... ORPHA:1292
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Irregular dentition, Encephalocele, Talipes equinovarus, Anal atresi... OMIM:619148
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Cranial asymmetry, Long philtrum, Thick lower lip vermilion ORPHA:137634
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Agenesis of permanent teeth, Intrauterine growth retardation, Tented upper lip ver... OMIM:618644
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly, Dental crowding, Protruding tongue, Submucous cleft hard palate, Microcephaly, Thi... OMIM:618106
Pde4D Haploinsufficiency Syndrome
Short toe, Long philtrum, Broad hallux, Abnormal dental enamel morphology, Short middle phalanx o... ORPHA:439822
3P25.3 Microdeletion Syndrome
High, narrow palate, Broad thumb, Downturned corners of mouth, Broad hallux, Overlapping toe, Thi... ORPHA:435638
Even-Plus Syndrome
Dysplasia of the femoral head, Hypodontia, Brachycephaly, High palate, Anal atresia OMIM:616854
Crouzon Syndrome
Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Narrow palate, Frontal bossing ORPHA:207
Faciocardiorenal Syndrome
Plagiocephaly, Narrow mouth, Smooth philtrum, Hypodontia, Cleft palate ORPHA:1973
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Long philtrum, Pursed lips, Ulnar deviation of the hand or of fingers of the hand, Narrow mouth, ... ORPHA:562528
Wieacker-Wolff Syndrome, Female-Restricted
Radial deviation of the hand, Downturned corners of mouth, Long philtrum, Talipes equinovarus, Br... OMIM:301041
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Microcephaly, Hand polydactyly, Brachycephaly, High palate, Syndactyly OMIM:239710
Gomez-Lopez-Hernandez Syndrome
Skull asymmetry, Turricephaly, Smooth philtrum, Brachycephaly, Thin vermilion border, Craniosynos... OMIM:601853
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Frontal bossing, Abnormal dental enam... ORPHA:85199
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Prominent fingertip pads, Thin upper lip vermilion, Smooth philtrum, Short philtru... OMIM:619188
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Downturned corners of mouth, Clinodactyly, Thick upper lip vermilion, Intrauterine... OMIM:617360
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Prominent occiput, Brachycephaly, Anal atresia, Cleft palate, Sy... OMIM:220210
Houge-Janssens Syndrome 3
Plagiocephaly, Umbilical hernia, Microcephaly, High palate, Short philtrum, Frontal bossing OMIM:618354
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Finger syndactyly, Long philtrum, Sandal gap, Intrauterine growth retardation, ... ORPHA:254346
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardat... OMIM:616897
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Brachyturricephaly, Bowing of the legs, Bow... OMIM:613849
Xq28 (MECP2) duplication
Microcephaly, Brachycephaly, Narrow mouth DECIPHER:45
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Brachycephaly, Abnormal shape of the occiput, Frontal bossing, Pyloric stenosis OMIM:218350
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Brachycephaly, Finger syndactyly ORPHA:1514
Lymphatic Malformation 5
Cleft palate OMIM:153200
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Rectourethral fistula, ... OMIM:603116
Houge-Janssens Syndrome 2
Plagiocephaly, Broad hallux, Deviation of the 5th finger, Tented upper lip vermilion, Open mouth,... OMIM:616362
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Plagiocephaly, Dental malocclusion, Widely spaced teeth, Frontal ... OMIM:619293
Atelosteogenesis Type Ii
Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinovarus, Short metacarp... ORPHA:56304
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Microcephaly, Brachycephaly, Brachydactyly, Clinod... ORPHA:2163
Dysostosis, Stanescu Type
Abnormality of the dentition, Carious teeth, Micromelia, Tooth agenesis, Abnormal dental enamel m... ORPHA:1798
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Anteriorly placed anus, Int... ORPHA:1225
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Small hand, Widely spaced teeth, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosyn... ORPHA:459061
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Small hand, Toe syndactyly, Plagiocephaly, Downturned corners of mouth, Long ph... OMIM:610759
Laurence-Moon Syndrome
Brachycephaly, Hand polydactyly, Brachydactyly, Finger syndactyly ORPHA:2377
Desanto-Shinawi Syndrome
Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth OMIM:616708
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open... ORPHA:1452
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Umbilical hernia, Abnormal dental morphology, Narrow mouth, Ten... OMIM:612582
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Proboscis, Encephalocele, Solitary med... OMIM:605627
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Toe syndactyly, Genu valgum, Complete duplication of proximal phalan... OMIM:201000
Smith-Magenis Syndrome
Toe syndactyly, Cleft upper lip, Open mouth, Tented upper lip vermilion, Delayed eruption of prim... ORPHA:819
Frontonasal Dysplasia 2
Conical tooth, Parietal foramina, Widely spaced teeth, Intrauterine growth retardation, Tessier n... OMIM:613451
Ritscher-Schinzel Syndrome 4
Narrow palate, Plagiocephaly, Thick vermilion border, Brachycephaly, Ulnar deviation of the hand,... OMIM:619435
ERI1-related disease
Velopharyngeal insufficiency, Slender metacarpals, Oligodactyly, Intrauterine growth retardation,... OMIM:608739
Smith-Magenis Syndrome
Abnormality of the dentition, Everted upper lip vermilion, Velopharyngeal insufficiency, Orofacia... OMIM:182290
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Intrauterine growth retardation, Tented upper lip vermilion, Exaggerated cupid's b... OMIM:619833
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Thin upp... OMIM:174300
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, T... OMIM:234100
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Rocker bottom foot, Plagiocephaly ORPHA:1143
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Plagiocephaly, Downturned corners of mouth, Cleft upper lip, Ante... OMIM:239300
Noonan Syndrome 13
Plagiocephaly, Clinodactyly, Long philtrum, Widely spaced teeth, Overlapping toe, Microdontia, Mi... OMIM:619087
Prune1-Related Neurological Syndrome
Bilateral talipes equinovarus, Microcephaly, Plagiocephaly ORPHA:544469
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Plagiocephaly, Broad hallux, Umbilical hernia, Long hallux, Turricephaly, Sh... OMIM:613776
Malan Overgrowth Syndrome
Plagiocephaly, Scaphocephaly, Narrow mouth, High palate, Frontal bossing ORPHA:420179
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Downturned corners of mouth, Intestinal malrotation, Thin upper lip vermilion, Mic... ORPHA:457193
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Narrow mouth, Brachycephaly, Crani... ORPHA:1790
Robinow-Sorauf Syndrome
Broad thumb, Plagiocephaly, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux... OMIM:180750
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal... ORPHA:1827
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Plagiocephaly, Natal tooth, Thick lower lip vermilion, Umbilical he... ORPHA:261652
Distal Deletion 3P
Downturned corners of mouth, Long philtrum, Umbilical hernia, Intrauterine growth retardation, Mi... ORPHA:1620
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly, Wide mouth OMIM:616083
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Trisomy 20P
Abnormality of the dentition, Plagiocephaly, Downturned corners of mouth, Finger syndactyly, Umbi... ORPHA:261318
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly, Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion... OMIM:619680
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Plagiocephaly, Downturned corners of mouth, Long philtrum, Finger synd... ORPHA:2215
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Dental crowding, Brachycephaly, Sagittal c... OMIM:123500
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Plagiocephaly, Umbilical hernia, Open mouth, Microcephaly, Acromesomelia ORPHA:500159
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Long philtrum, Intrauterine growth retardation, Thin upper lip vermilion, Ar... OMIM:612513
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Umbilical hernia, Intrauterine growth retardation, Open mouth, Microcephaly OMIM:617751
Apert Syndrome
Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cutaneou... OMIM:101200
Raine Syndrome
Plagiocephaly, Natal tooth, Micromelia, Brachyturricephaly, Long hallux, Gingival overgrowth, Nar... OMIM:259775
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Long philtrum, Tented upper lip vermilion, Thin upper lip vermilion, Short philtrum, Brachycephal... OMIM:619244
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Brachycephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Fg Syndrome Type 1
Abnormal large intestine morphology, Dental crowding, Finger syndactyly, Long philtrum, Umbilical... ORPHA:93932
Contractural Arachnodactyly, Congenital
Ulnar deviation of finger, Scaphocephaly, Arachnodactyly, Talipes equinovarus, Bowing of the long... OMIM:121050
Nabais Sa-De Vries Syndrome, Type 1
Smooth philtrum, Brachycephaly, Clinodactyly of the 5th finger, Primary microcephaly OMIM:618828
Band Heterotopia
Plagiocephaly OMIM:600348
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Abnormal dental enamel morphology, Macrodontia, Hypodontia, Brachydactyly, Postaxi... ORPHA:2916
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, High palate, Flat occiput, Coronal craniosynostosis, O... OMIM:614188
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, Dental ... OMIM:101600
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Menkes Disease
Metaphyseal spurs, Intrauterine growth retardation, Microcephaly, Brachycephaly, Metaphyseal wide... OMIM:309400
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Brachycephaly, Long fingers, High palate, Tapered finger OMIM:218000
Achondrogenesis, Type Ii
Long philtrum, Short tubular bones of the hand, Brachycephaly, Frontal bossing, Cleft palate OMIM:200610
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Plagiocephaly, Arachnodactyly, Brachycephaly, Clinodactyly of the 5th finger OMIM:619910
Marshall Syndrome
Abnormality of the dentition, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion... ORPHA:560
Cooper-Jabs Syndrome
Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Frontal bossing, Brachycephaly... ORPHA:1488
Beck-Fahrner Syndrome
Long philtrum, Open mouth, Microcephaly, Brachycephaly, High palate OMIM:618798
Skin Creases, Congenital Symmetric Circumferential, 1
Long philtrum, Narrow mouth, Microcephaly, Brachycephaly, Long fingers, High palate, Cleft palate OMIM:156610
Martsolf Syndrome 1
Tooth malposition, Broad femoral neck, Short toe, Long philtrum, Slender ulna, Avascular necrosis... OMIM:212720
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
2-3 toe cutaneous syndactyly, Widely spaced teeth, Tented upper lip vermilion, Narrow mouth, Micr... OMIM:300260
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes, Talipes eq... OMIM:609128
Developmental And Epileptic Encephalopathy 1
Microcephaly, Plagiocephaly OMIM:308350
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Long philtrum, Overlapping toe, Overlapping fingers, Tented upper lip vermilion, T... OMIM:619383
Sweeney-Cox Syndrome
Short distal phalanx of finger, Velopharyngeal insufficiency, Narrow mouth, Median cleft palate, ... OMIM:617746
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Posterior plagiocephaly, Short lower limbs, Abnormal fibular epiphysis... ORPHA:96190
Williams-Beuren Region Duplication Syndrome
Short philtrum, Brachycephaly, High palate, Diastema OMIM:609757
Cutis Laxa, Autosomal Recessive, Type Iiia
Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Talipes equinovarus, Brachycepha... OMIM:219150
Gillessen-Kaesbach-Nishimura Syndrome
Smooth philtrum, Brachycephaly, Microcephaly, Ulnar deviation of the hand, Metaphyseal widening OMIM:263210
Opitz-Kaveggia Syndrome
Broad thumb, Clinodactyly, Anal atresia, Syndactyly, Plagiocephaly, Prominent fingertip pads, Cle... OMIM:305450
Apert Syndrome
Bifid uvula, Toe syndactyly, Broad thumb, Delayed eruption of teeth, Finger syndactyly, Micromeli... ORPHA:87
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, Microcephaly, Orofacial cleft, B... OMIM:601701
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Long hallux, Thicke... OMIM:309583
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Talipes equinovarus, Brachycephaly,... OMIM:610253
Intellectual Developmental Disorder, Autosomal Dominant 1
Downturned corners of mouth, Sandal gap, Widely spaced teeth, Frontal bossing, Secondary microcep... OMIM:156200
Congenital Disorder Of Glycosylation, Type Iit
Small hand, Sandal gap, Tented upper lip vermilion, Microcephaly, Brachycephaly, Thick vermilion ... OMIM:618885
Aica-Ribosiduria Due To Atic Deficiency
Thin upper lip vermilion, Brachycephaly, Wide mouth, Frontal bossing OMIM:608688
Stevenson-Carey Syndrome
Downturned corners of mouth, Narrow mouth, Brachycephaly, Camptodactyly, Pierre-Robin sequence OMIM:611961
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Clinodactyly of... ORPHA:96148
Holoprosencephaly 7
Unilateral cleft lip, Frontal bossing, Median cleft palate, Bilateral cleft palate, Median cleft ... OMIM:610828
Hyperphosphatasia-Intellectual Disability Syndrome
Bifid uvula, Plagiocephaly, Downturned corners of mouth, Anteriorly placed anus, Clinodactyly, Te... ORPHA:247262
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Broad thumb, Lip pit, Camptodactyly of finger, Abnormal palate morphology, Hypodon... ORPHA:1236
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Metaphyseal cupping, Plagiocephaly, Short middle phalanx of finge... OMIM:618853
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Frontal bossing, Villous atrophy, Microcephaly, Brachycephaly, Wide mouth OMIM:608776
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Coronal craniosynostosis, Umbilical... ORPHA:2095
Intellectual Disability-Strabismus Syndrome
Abnormality of the dentition, Plagiocephaly, Intrauterine growth retardation, Congenital finger f... ORPHA:363528
20Q11.2 Microduplication Syndrome
Tented philtrum, Trigonocephaly, Gingival overgrowth, Tented upper lip vermilion, Microcephaly, A... ORPHA:363659
Congenital Disorder Of Glycosylation, Type Iia
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Microce... OMIM:212066
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Femoral bowing, Humeroradia... OMIM:207410
Hamamy Syndrome
Dental malocclusion, Long philtrum, Thin upper lip vermilion, Hypodontia, Smooth philtrum, Long t... OMIM:611174
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Thick vermilion border, Open mouth, Short phi... ORPHA:364028
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Abnormality of the dentition, Downturned corners of mouth, Long phil... OMIM:615398
Adenylosuccinase Deficiency
Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microcephaly, Wide mouth OMIM:103050
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Secondary... OMIM:620073
Angelman Syndrome
Widely spaced teeth, Secondary microcephaly, Protruding tongue, Brachycephaly, Macroglossia, Wide... OMIM:105830
Cree Impaired Intellectual Development Syndrome
Brachycephaly, Cutaneous finger syndactyly, Cleft soft palate, Rocker bottom foot OMIM:606851
19P13.13 Microdeletion Syndrome
Clinodactyly, Sandal gap, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, Brachycephaly,... ORPHA:357001
Branchioskeletogenital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly... ORPHA:1299
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Short 4th toe, Short fourth metatarsal, F... OMIM:620662
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Dental crowding, Sandal gap, Long philtrum, Broad hallux, Ankyloglossia, Cutaneous... OMIM:616078
Saethre-Chotzen Syndrome
Broad thumb, Plagiocephaly, Finger syndactyly, Open bite, Brachycephaly, Triphalangeal thumb, Hal... ORPHA:794
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Chromosome 15Q11.2 Deletion Syndrome
Slender finger, Plagiocephaly, Clinodactyly, Short finger, Irregular dentition, Arachnodactyly, S... OMIM:615656
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Plagiocephaly, Submucous cleft hard palate, Microcephaly, Tracheoesophageal fistula, Esophageal a... OMIM:619227
Developmental And Epileptic Encephalopathy 84
Smooth philtrum, Plagiocephaly, Microcephaly, Thick lower lip vermilion OMIM:618792
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Dental crowding, Brachycephaly, Short philtrum, Frontal bossing OMIM:617296
Warburg Micro Syndrome 3
Downturned corners of mouth, Secondary microcephaly, Microcephaly, Brachycephaly, Clinodactyly of... OMIM:614222
Fibrochondrogenesis
Plagiocephaly, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Narrow mouth, ... ORPHA:2021
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Protruding tongue, Brachycephaly, Wide mouth, Flat occiput OMIM:618797
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat... OMIM:615582
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Long philtrum, Submucous cleft hard palate, Contracture of the proximal interphala... ORPHA:457279
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Long philtrum, Micromelia, Broad hallux, Brachycephaly, Brachydactyly, Thin vermilion... OMIM:614800
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa... OMIM:619229
Chromosome 2Q37 Deletion Syndrome
Short toe, Type E brachydactyly, Brachycephaly, Short fourth metatarsal, Short phalanx of finger,... OMIM:600430
Lig4 Syndrome
Microcephaly, Brachycephaly, Thin vermilion border, Clinodactyly of the 5th finger, Biparietal na... ORPHA:99812
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly, High palate, Brachydactyly OMIM:619995
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bowing of the long bones, Radiou... ORPHA:3103
White-Sutton Syndrome
Bifid uvula, Broad thumb, Downturned corners of mouth, Intrauterine growth retardation, Short phi... OMIM:616364
Alkuraya-Kucinskas Syndrome
Hand clenching, Plagiocephaly, Clinodactyly, Overlapping fingers, Overlapping toe, Talipes equino... OMIM:617822
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Brachycephaly ORPHA:70472
2P15P16.1 Microdeletion Syndrome
Toe clinodactyly, Sandal gap, Long philtrum, Camptodactyly of finger, Intrauterine growth retarda... ORPHA:261349
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ... ORPHA:861
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Plagiocephaly, Downturned corners of mouth, Furrowed tongue, Intrauterine growth ret... ORPHA:453499
Au-Kline Syndrome
Bifid uvula, Plagiocephaly, Dental malocclusion, Downturned corners of mouth, Overlapping toe, Op... OMIM:616580
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Narrow mouth, Patellar aplasia, Perineal fistula,... OMIM:218600
Dihydropyrimidinase Deficiency
Plagiocephaly, Talipes equinovarus, Microcephaly, Anal atresia, Short phalanx of finger OMIM:222748
Humeroradial Synostosis
Brachycephaly, Humeroradial synostosis OMIM:236400
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Plagiocephaly, Intrauterine growth retardation, Abnormal distal ... ORPHA:2673
Cornelia De Lange Syndrome 1
Dislocated radial head, High palate, High, narrow palate, Downturned corners of mouth, Thin upper... OMIM:122470
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Long philtrum, Frontal bossing, Open bite, Brachycephaly, Deep philtrum, Evert... ORPHA:1974
Galloway-Mowat Syndrome 4
Plagiocephaly, Primary microcephaly, Tapered finger OMIM:617730
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metatarsal cortices, Distal tapering of metatarsals, Finger swelling, Delayed eruption of te... OMIM:259600
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Broad thumb, Plagiocephaly, Short thumb, Broad hallux, Turricephaly, High palate, Bilateral talip... OMIM:620224
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Rhizomelia, Sandal gap, Long philtrum, Flared metaphysis, Genu valgum, Narro... OMIM:245600
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal... ORPHA:2751
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Broad thumb, Cleft upper lip, Oligodontia, Brachycephaly, Wide mo... OMIM:201180
Intellectual Developmental Disorder, Autosomal Dominant 53
Posterior plagiocephaly, Intestinal malrotation, Genu valgum, Microcephaly, Brachycephaly, Wide m... OMIM:617798
Doors Syndrome
Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal ... ORPHA:79500
Cerebellar Ataxia-Hypogonadism Syndrome
Clinodactyly of the 5th finger, Brachycephaly ORPHA:1173
Trichohepatoneurodevelopmental Syndrome
Plagiocephaly, Dental crowding, Downturned corners of mouth, Bilateral coxa valga, Widely spaced ... OMIM:618268
Pfeiffer Syndrome Type 3
Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Brachyturricephaly, Intestinal malrot... ORPHA:93260
Craniofrontonasal Syndrome
Abnormality of the dentition, Coronal craniosynostosis, Toe syndactyly, Broad hallux, Cleft upper... OMIM:304110
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Abnormality of the dentition, Small hand, Long philtrum, Postaxial polydactyly, Smoo... OMIM:300968
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Turricephaly, Aganglionic megacolon, Talipes equinovarus, Microcephaly, Short phil... OMIM:613603
Warburg Micro Syndrome 4
Secondary microcephaly, Brachycephaly, Narrow mouth, Long philtrum OMIM:615663
Peroxisome Biogenesis Disorder 12A (Zellweger)
Microcephaly, Scaphocephaly, Cranial asymmetry OMIM:614886
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal dental morphology, Abnormal finger morphology, Cranial asymmetry, Abnormality of dental ... OMIM:163200
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fifth metatarsal, Plagiocephaly, Microdontia, 2-3 toe syndactyly, Clinodactyly of the 5th t... OMIM:261990
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Sandal ga... ORPHA:870
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Long philtrum, Finger clinodactyly, Narrow mouth, Thin upper lip vermilion, Brachycephaly, Brachy... OMIM:601353
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Clinodactyly, Broad 2nd toe, Open mouth, Everted lower lip vermilion, Large hands, Bilateral tali... OMIM:280000
9Q33.3Q34.11 Microdeletion Syndrome
Plagiocephaly, Tented philtrum, Patellar hypoplasia, Esophagitis, Narrow mouth, Patellar aplasia,... ORPHA:495818
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Protruding tongue, Microcephaly, Brachycephaly, Everted lower lip ve... ORPHA:96147
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Plagiocephaly, Dental crowding, Intrauterine growth retardation, Thick vermilion border, Dolichoc... OMIM:619005
Carey-Fineman-Ziter Syndrome 1
Microglossia, Plagiocephaly, Talipes equinovarus, Tapered finger, Microcephaly, High palate, Glos... OMIM:254940
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Delayed eruption of teeth, Long hallux, Intrauterine growth retardation, Con... OMIM:101800
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Delayed eruption of permanent teeth, Tented upper lip vermilion, Microcephaly, Brachycephaly, Lon... ORPHA:521445
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Lambdoidal ... OMIM:101400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Ulnar deviation of finger, Plagiocephaly, Long philtrum, Umbilical hernia, C... ORPHA:1101
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Brachycephaly, Broad philtrum, Wide mouth, Cleft palate ORPHA:1394
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, High palate, Plagiocephaly, Downturned c... OMIM:618371
Bifid Nose With Or Without Anorectal And Renal Anomalies
Anteriorly placed anus, Short lingual frenulum, Brachycephaly, Short philtrum, Rectovaginal fistu... OMIM:608980
7Q31 Microdeletion Syndrome
Plagiocephaly, Clinodactyly of the 2nd finger, Long philtrum, Prominent fingertip pads, Intrauter... ORPHA:251061
Weill-Marchesani Syndrome 1
Tooth malposition, Broad phalanges of the hand, Abnormal dental morphology, Brachycephaly, Brachy... OMIM:277600
Kleefstra Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip vermilion, Exaggerated c... ORPHA:261494
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Broad thumb, Plagiocephaly, Genu valgum, Delayed eruption of prim... OMIM:620099
Alagille Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Clinodactyly of the 5th finger, ... ORPHA:52
Ring Chromosome 7 Syndrome
Short 5th finger, Bifid uvula, Small hand, Slender finger, Plagiocephaly, 3-4 toe syndactyly, Gen... ORPHA:1449
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Broad distal phalanx of finger, Enlarged interphalangeal joints, Abnormality of the epiphysis of ... ORPHA:2988
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly, Large hands, Thin vermilion border, Short philtrum, Wide mouth, Proximal radio-uln... ORPHA:2062
Acromelic Frontonasal Dysostosis
Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preaxial foot polyd... OMIM:603671
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hand clenching, Clubbing of toes, Plagiocephaly, Dental crowding, Open bite, Arachnodactyly, Micr... OMIM:620083
Metaphyseal Chondrodysplasia, Jansen Type
Tooth malposition, Metaphyseal cupping, Bowing of the long bones, Metaphyseal chondrodysplasia, B... OMIM:156400
De Barsy Syndrome
Delayed eruption of teeth, Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Talip... ORPHA:2962
Phosphoribosylaminoimidazole Carboxylase Deficiency
Talipes equinovarus, Brachycephaly, Tracheoesophageal fistula, Esophageal atresia, Clinodactyly o... OMIM:619859
Cranioectodermal Dysplasia 2
Mesomelia, Rhizomelia, Plagiocephaly, Clinodactyly, Widely spaced teeth, Microdontia, Polydactyly... OMIM:613610
Chime Syndrome
Abnormality of the dentition, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, ... ORPHA:3474
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Mesomelia, Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial han... OMIM:263520
9P13 Microdeletion Syndrome
Clinodactyly of the 5th finger, High palate, Brachycephaly, Umbilical hernia ORPHA:324313
Joubert Syndrome 1
Postaxial foot polydactyly, Plagiocephaly, Clinodactyly, Occipital myelomeningocele, Triangular-s... OMIM:213300
Kbg Syndrome
Radial deviation of finger, Long philtrum, Macrodontia, Ulnar deviation of the 2nd finger, Tented... OMIM:148050
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Small hand, Plagiocephaly, Genu valgum, Primary microcephaly, Metatarsus adductus, High palate, S... ORPHA:300570
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Diastema, Intestinal malrotation, Narrow mouth, Thin upper lip vermilion, Smooth p... OMIM:244450
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Narrow mouth, Supernu... ORPHA:2108
Adnp Syndrome
Broad thumb, Plagiocephaly, Sandal gap, Broad hallux, Thick lower lip vermilion, Umbilical hernia... ORPHA:404448
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Coxa valga OMIM:109120
Weill-Marchesani Syndrome 2
Tooth malposition, Broad phalanges of the hand, Umbilical hernia, Short finger, Abnormal dental m... OMIM:608328
Congenital Myopathy 13
Downturned corners of mouth, Microcephaly, Brachycephaly, Bilateral talipes equinovarus, High pal... OMIM:255995
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Long philtrum, Smooth philtrum, Microcephaly, Progressive microcephaly, High palate OMIM:300749
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Short lingual frenulum, Craniosynostosis, High palate, Unilateral brachydactyly, W... ORPHA:1521
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Brachycephaly, Deep philtrum, Metatarsus adductus, High palate, Camptodactyl... OMIM:227330
Monosomy 9P
Abnormality of the dentition, Long philtrum, Trigonocephaly, Abnormality of the tarsal bones, Cal... ORPHA:261112
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Fibular hypoplasi... OMIM:617925
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Secondary microcephaly, Ulnar deviation of the 2nd finger, Thin upper lip vermilion, Ulnar deviat... ORPHA:456312
Warburg Micro Syndrome 2
Secondary microcephaly, Overlapping toe, Clinodactyly of the 5th toe, Microcephaly, Brachycephaly... OMIM:614225
Frank-Ter Haar Syndrome
Dental malocclusion, Flared metaphysis, Gingival overgrowth, Thin upper lip vermilion, Talipes eq... OMIM:249420
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Widely spaced teeth, Secondary microcephaly, Microcephaly, Frontal bossing OMIM:617193
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Plagiocephaly, Short thumb, Ectrodactyly, Intestinal malrotation, Oligodactyly, Abs... ORPHA:2538
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Brachycephaly, Coxa vara OMIM:610968
Mosaic Variegated Aneuploidy Syndrome 1
Long philtrum, Intrauterine growth retardation, Triangular mouth, Microcephaly, Brachycephaly, Du... OMIM:257300
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydactyly, Encephalocele, Exenceph... ORPHA:2211
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Long philtrum, Dislocated radial head, Narrow mouth, Exaggerated cupid's bow, Micr... OMIM:619512
Aymé-Gripp Syndrome
Plagiocephaly, Long philtrum, Narrow mouth, Oligodontia, Thin upper lip vermilion, Radioulnar syn... ORPHA:1272
White-Sutton Syndrome
Downturned corners of mouth, Open mouth, Narrow mouth, Thin upper lip vermilion, Short philtrum, ... ORPHA:468678
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Plagiocephaly, Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridg... OMIM:301072
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion, Trigonocephaly, Overlapping t... OMIM:309590
Distal Deletion 12Q
High, narrow palate, Microglossia, Broad hallux, Long philtrum, Short middle phalanx of finger, O... ORPHA:96149
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Carious teeth, Plagiocephaly, Long philtrum, Dysplasia of the femoral ... ORPHA:536467
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Microdontia, Supernume... OMIM:619718
Cartilage-Hair Hypoplasia
Small hand, Spinal dysraphism, Rhizomelia, Micromelia, Abnormal diaphysis morphology, Abnormal di... ORPHA:175
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Cleft upper lip, Overlapping toe, Gingival overgrowth, Talipes equinovarus, Brachycephaly, Microc... OMIM:213980
X-Linked Intellectual Disability, Snyder Type
Dental crowding, Thick lower lip vermilion, Narrow mouth, Arachnodactyly, Smooth philtrum, Slende... ORPHA:3063
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Long philtrum, Narrow mouth, Microcephaly, Macroglossia, High palate, Mesomelia OMIM:613457
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Short thumb, Downturned corners of mouth, Widely spaced teeth, Thin upper lip vermilion, Brachyce... OMIM:616728
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Eclabion, Downturned corners of mouth, Prominent fingertip pads, Widely spac... OMIM:619950
Ayme-Gripp Syndrome
Abnormality of the dentition, Craniofacial asymmetry, Long philtrum, Narrow mouth, Thin upper lip... OMIM:601088
Cartilage-Hair Hypoplasia
Anal stenosis, Metaphyseal cupping, Femoral bowing, Aganglionic megacolon, Brachycephaly, Esophag... OMIM:250250
Elsahy-Waters Syndrome
Bifid uvula, Anal stenosis, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick ... OMIM:211380
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Carpenter Syndrome 2
Carious teeth, Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, High palate, High, ... OMIM:614976
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Secondary microcephaly, Ulnar deviation of the 2nd finger, Thin upper lip vermilion, Talipes equi... OMIM:616263
Lig4 Syndrome
Clinodactyly of the 5th finger, Brachycephaly, Microcephaly OMIM:606593
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Brachycephaly, Os... ORPHA:371428
Duane Retraction Syndrome
Plagiocephaly, Preaxial hand polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, T... ORPHA:233
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Small hand, Plagiocephaly, Microcephaly, Brachycephaly, Short foot ORPHA:500055
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Microcephaly, Plagiocephaly, Short foot, Everted lower lip vermilion OMIM:615471
Coffin-Siris Syndrome 1
Aplasia/Hypoplasia of the patella, Dislocated radial head, High palate, Duodenal ulcer, Gastric u... OMIM:135900
Frontofacionasal Dysplasia
Bifid uvula, Cranium bifidum occultum, Hypoplasia of the frontal bone, Cleft upper lip, Orofacial... OMIM:229400
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Short hallux, Genu varum, Pl... OMIM:616268
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Bifid uvula, Plagiocephaly, Narrow mouth, Exaggerated cupid's bow, Spina bifida, Thick vermilion ... OMIM:619480
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Posterior plagiocephaly, Ankyloglossia, Genu valgum, Everted lower lip... OMIM:615873
Fucosidosis
Abnormality of the dentition, Brachycephaly ORPHA:349
Gorlin Syndrome
Carious teeth, Arachnodactyly, Orofacial cleft, Brachycephaly, Brachydactyly, Odontogenic keratoc... ORPHA:377
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Upper limb undergrowth, Tented u... ORPHA:369837
Alg9-Cdg
Bifid uvula, Rhizomelia, Long philtrum, Flared metaphysis, Frontal bossing, Villous atrophy, Thin... ORPHA:79328
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Contracture of the proximal interphalangeal joint of the 3rd finger, Brachycephaly, Co... OMIM:618223
Gapo Syndrome
High, narrow palate, Plagiocephaly, Eruption failure, Long philtrum, Thick lower lip vermilion, U... OMIM:230740
7Q11.23 Microduplication Syndrome
Dental malocclusion, Diastema, Short lingual frenulum, Thin upper lip vermilion, Brachycephaly, L... ORPHA:96121
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Narrow mouth, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus, Radioul... ORPHA:95699
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, High palate, Prominent fingertip pads, Mesoaxial foot polydactyly, ... OMIM:612474
Aicardi Syndrome