Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
keratinocyte differentiation factor 1
Synonyms:
1810019J16Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kdf1 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 Kdf1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Acne inversa, Eczematoid dermatitis, Orthokeratosis, Conca... OMIM:617337
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Depressed nasal ridge, Eczematoid dermatitis, Abnormal dental morph... ORPHA:1810

The table below shows human diseases predicted to be associated to Kdf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Abnormality of the dentition, Depressed nasal ridge, Low-set ears, Sandal gap,... ORPHA:178303
Costello Syndrome
Abnormality of the dentition, Ulnar deviation of finger, Gastroesophageal reflux, Depressed nasal... ORPHA:3071
Maxillonasal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Depressed nasal bridge, Tooth agenesis, Op... ORPHA:1248
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, High palate, Short foot, Short nose OMIM:300577
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Short p... ORPHA:217340
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Lamellar Ichthyosis
Abnormality of the dentition, Abnormal helix morphology, Dry skin, Lack of skin elasticity, Eryth... ORPHA:313
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Thin upper lip vermilion, Shor... ORPHA:2015
Ring Chromosome 8 Syndrome
Deviation of finger, Anteverted nares, Abnormal palate morphology, Round ear, Polyhydramnios, Sho... ORPHA:1450
Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, Long philtrum, Bulbous nose, Redundant skin, Excessive wrinkled skin, La... OMIM:612940
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Low-set, posteriorly rot... ORPHA:261120
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Brachydactyly, Convex nasal ridge, Meso... ORPHA:1277
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Toe syndactyly, Large earlobe, Anteverted nares, Death in childhood, Deat... OMIM:616809
Werner Syndrome
Gastrointestinal carcinoma, Small hand, Skin ulcer, Neoplasm of the oral cavity, Hypogonadism, Ne... ORPHA:902
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Dental crowding, Micrognathia, Narrow mouth, Cryptorchidism, Sensorineural hea... OMIM:615381
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Micrognathia, Narrow mouth, Lack of skin elasticity, Convex nasal ridge ORPHA:1979
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... ORPHA:3104
Clark-Baraitser Syndrome
Low-set ears, Depressed nasal bridge, Sandal gap, Clinodactyly, Downturned corners of mouth, Long... OMIM:617752
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Non-Distal Duplication 10Q
Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Everted ... ORPHA:1695
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Depressed nasal ridge, Anteverted nares, Micrognathia, Median cleft palate, Gingiva... ORPHA:1832
Weiss-Kruszka Syndrome
Low-set ears, Hearing impairment, Cryptorchidism, Exaggerated cupid's bow, Prominent nasal tip, C... ORPHA:502430
Neu-Laxova Syndrome
Bifid uvula, Depressed nasal ridge, Micromelia, Macrotia, Hypogonadism, External genital hypoplas... ORPHA:2671
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:384
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Small hand, Hypospadias, Sandal gap, Thick lower lip vermilion, Hypogonad... OMIM:300354
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... OMIM:249710
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Low-set ears, 11 pairs of ribs, Micrognathia, Cryptorchidism, Prenatal death, ... OMIM:618393
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Hypospadi... ORPHA:1355
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Microglossia, Postaxial foot polydactyly, Micromelia, Sho... OMIM:241800
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema... ORPHA:281127
Autosomal Recessive Omodysplasia
Low-set ears, Depressed nasal bridge, Rhizomelia, Micromelia, Long philtrum, Short nose, Antevert... ORPHA:93329
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Hearing impairment, Microdont... OMIM:619736
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Hearing ... OMIM:602342
17P13.3 Microduplication Syndrome
Low-set ears, Narrow mouth, Clinodactyly of the 5th finger, High palate, Hypoplasia of penis, Sho... ORPHA:217385
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal... ORPHA:64745
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Low-set ears, Gastroesophageal reflux, Clinodactyly, Hearing impairment, Recur... OMIM:613604
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Short toe, Hearing impairment, Short nose, Genu valgum, Micrognathia, Narrow m... OMIM:614078
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality ... ORPHA:163966
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilion, Bulbous ... ORPHA:969
Distal Duplication 18Q
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal female ext... ORPHA:1716
Atelosteogenesis, Type Ii
Depressed nasal bridge, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognathia, Death in inf... OMIM:256050
Adenylosuccinate Lyase Deficiency
Low-set ears, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Radio-Tartaglia Syndrome
Low-set ears, Hearing impairment, Dry skin, Micrognathia, Prominent nasal tip, High palate, Dysph... OMIM:619312
Catel-Manzke Syndrome
Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Radial d... ORPHA:1388
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Hearing impairment, Cleft soft palate, Micrognathia, Cryptorchidism, S... OMIM:616331
Leri Pleonosteosis
Broad thumb, Camptodactyly of finger, Lack of skin elasticity, Abnormal metacarpal morphology, Br... ORPHA:2900
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Oligohydramnios, Abnormal antihelix morphology, Brac... ORPHA:2145
Phosphoribosylaminoimidazole Carboxylase Deficiency
Low-set ears, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral crypt... OMIM:619859
Chung-Jansen Syndrome
Long philtrum, Macrotia, Large earlobe, Anteverted nares, Micrognathia, Cryptorchidism, Short phi... OMIM:617991
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Large earlobe, Short... OMIM:155050
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Broad nasal... OMIM:618529
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Low-set ears, Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid's bow, Pos... OMIM:618506
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Polyhydramnios, Macroglossia... ORPHA:1423
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Low-set ears, Abnormal upper lip morphology, Micrognathia... ORPHA:2849
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Abnormal metacarpal morphology, Brachydactyly, T... ORPHA:2370
Lipoid Proteinosis
Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, Pustul... ORPHA:530
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Gastroesophageal reflux, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormal palate mor... ORPHA:1495
Facial Paresis, Hereditary Congenital, 3
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia... OMIM:614744
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Mosaic Trisomy 14
Wide nasal bridge, Hypospadias, Camptodactyly of finger, Low-set, posteriorly rotated ears, Antev... ORPHA:1703
Chromosome 6Q11-Q14 Deletion Syndrome
Low-set ears, Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Micrognathia, Prominent n... OMIM:613544
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue OMIM:155900
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Long philtrum, Bifid scrotum, Micrognat... ORPHA:93328
Acrodysostosis
Hearing impairment, Open bite, Abnormal female external genitalia morphology, Open mouth, Cryptor... ORPHA:950
Orofaciodigital Syndrome Xix
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro... OMIM:620107
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Striae distensae, Skin rash, Excessive wrinkled skin, Hyperextensibl... ORPHA:758
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, 2-5 finger cutaneous s... OMIM:601224
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Ulnar deviation of finger, Depressed nasal bridge, Low-set, posteriorly rotate... ORPHA:1387
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, 2-3 toe synd... OMIM:613443
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Aplasia/Hypoplasia of fingers, Microglossia, Cleft palate ORPHA:141152
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Micromelia, Sandal gap, Low-set, posteriorly rotated ears, Dry s... ORPHA:1035
Weill-Marchesani Syndrome 2
Tooth malposition, Depressed nasal bridge, Broad phalanges of the hand, Short finger, Abnormal de... OMIM:608328
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
C Syndrome
Low-set ears, Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Mic... OMIM:211750
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnormal metaphysis morphology, Bowin... ORPHA:2631
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Hypospadias, Short nos... OMIM:616897
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea... OMIM:614669
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Short 5th metacarpal,... ORPHA:1350
Meckel Syndrome, Type 8
Low-set ears, Depressed nasal ridge, Cleft upper lip, Polydactyly, Talipes equinovarus, Ambiguous... OMIM:613885
Orofaciodigital Syndrome Xv
Wide nasal bridge, Low-set ears, Midline notch of upper alveolar ridge, Broad hallux, Anteverted ... OMIM:617127
Acrocephalopolydactyly
Depressed nasal ridge, Limb undergrowth, Brachydactyly, Short nose, Microtia ORPHA:221054
Even-Plus Syndrome
Atopic dermatitis, Depressed nasal ridge, Bifid nasal tip, Dysplasia of the femoral head, Oligohy... OMIM:616854
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Erythema, Micromelia, Anteverted nares, ... OMIM:610015
Geleophysic Dysplasia 1
Wide nasal bridge, Short metacarpals with rounded proximal ends, Long philtrum, Camptodactyly of ... OMIM:231050
Terminal Osseous Dysplasia
Toe clinodactyly, Low-set ears, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg s... OMIM:300244
Orofaciodigital Syndrome Xi
Wide nasal bridge, Hypoplasia of the odontoid process, Gastroesophageal reflux, Bulbous nose, Pos... OMIM:612913
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Long penis, Long philtrum, Preaxial foot polydacty... ORPHA:1988
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Micromelia, Delayed eruption of teeth, Death i... ORPHA:166272
Microphthalmia With Limb Anomalies
Flared nostrils, Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, H... OMIM:206920
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... ORPHA:363417
Antisynthetase Syndrome
Xerostomia, Skin rash, Lack of skin elasticity, Pruritus, Dysphagia, Edema ORPHA:81
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Micromelia, Mesomelic/rhizomelic limb shortening, Aplasia/Hypoplasia o... ORPHA:2632
Diastrophic Dysplasia
Depressed nasal bridge, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, He... ORPHA:628
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Long philtrum, Intestinal malrotation, Prominent nasal bridge, Cr... ORPHA:401935
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Macrotia, Thin upper lip vermilion, Smooth philtrum, Short... ORPHA:438178
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Micrognathia, Cryptorchidism, Neonata... OMIM:615524
Mesomelia-Synostoses Syndrome
Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the uvula, Abnormal tibia m... ORPHA:2496
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Depressed nasal bridge, Toe syndactyly, Long philtrum, Anteverted nares, Micrognath... ORPHA:171839
Omodysplasia 2
Recurrent otitis media, Micrognathia, Cryptorchidism, Dislocated radial head, Hypospadias, Hypopl... OMIM:164745
Non-Distal Duplication 13Q
Aplasia/Hypoplasia of the earlobes, Abnormality of the dentition, Long philtrum, Micrognathia, Cr... ORPHA:1702
Whistling Face Syndrome, Recessive Form
Whistling appearance, Ulnar deviation of finger, Microglossia, Long philtrum, Underdeveloped nasa... OMIM:277720
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Atelosteogenesis Type Ii
Wide nasal base, Low-set ears, Hypoplastic cervical vertebrae, Micrognathia, Genu valgum, Bilater... ORPHA:56304
Peho-Like Syndrome
Short nose, Open mouth, Edema, Tapered finger OMIM:617507
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Macrotia, Thick upper lip vermilion, Anteverted nares, Prominent nasal ... OMIM:300558
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Depressed... OMIM:617102
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Hearing impairment, Micrognathia, Cryptorchidism, High palate, Short ... OMIM:300882
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Low-set ears, Broad thumb, Dental crowding, Long philtrum, Decreased testicular... ORPHA:251019
Coffin-Siris Syndrome 11
Bifid uvula, Small hand, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Cleft... OMIM:618779
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Broad nasal tip, Hearing impairment, Long philtrum, Thick lower lip vermilion,... OMIM:619451
Achondrogenesis Type 1B
Micromelia, Long philtrum, Anteverted nares, Micrognathia, Talipes equinovarus, Hydrops fetalis, ... ORPHA:93298
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Large earlobe, Tented upper lip vermilion, Thin upper lip ver... OMIM:615716
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cup... ORPHA:85166
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Duodenal stenosis, Micrognathia, Short nose, Polyhydramnios, Hypoplasia ... ORPHA:2547
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Precocious puberty, Anteverted na... OMIM:619356
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Shor... ORPHA:1327
Ruvalcaba Syndrome
Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Narrow nose, Cryptorchidism, ... OMIM:180870
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose OMIM:125700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Short 4th metacarpal, Limb ... OMIM:118651
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Depressed nasal bridge, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis... ORPHA:1427
Achondrogenesis Type 1A
Micromelia, Long philtrum, Anteverted nares, Micrognathia, Hydrops fetalis, Short nose, Polyhydra... ORPHA:93299
Miller-Dieker Syndrome
Abnormal upper lip morphology, Anteverted nares, Polyhydramnios, Clinodactyly of the 5th finger, ... ORPHA:531
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Hypospadias, Short nose, Gast... OMIM:618316
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Abnormality of the dentition, Hearing impairment, Aplasia/Hypopla... ORPHA:90153
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head dislocation, So... OMIM:602418
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Long philtrum, Short nose ORPHA:2598
Achondrogenesis
Micromelia, Long philtrum, Anteverted nares, Micrognathia, Polyhydramnios, Hydrops fetalis, Short... ORPHA:932
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Underdeveloped nasal alae, Anteverted nares, Congenital pyloric atresia, Neonatal death, Polyhydr... OMIM:612138
Atelosteogenesis, Type I
Low-set ears, Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Neonatal death, Talip... OMIM:108720
Achondrogenesis, Type Ia
Low-set ears, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral metaphysis morphol... OMIM:200600
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Aplasia/Hypoplasia invo... ORPHA:1529
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Finger syndactyly, Long philtrum, Tooth agenesis, Underdeveloped nasal alae, H... ORPHA:1252
Baralle-Macken Syndrome
High, narrow palate, Striae distensae, Tapered finger OMIM:619255
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Small scrotum, Hearing impairment, Long philtrum, Wide... OMIM:249620
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Hearing impairment, Thick lower lip vermilion, Macrotia, Low-set, posteriorly rota... ORPHA:2701
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Gastroesophageal reflux, Macrotia, Micrognathia, Cryptorchidism, Thin upper lip ver... OMIM:615419
Schneckenbecken Dysplasia
Hypoplastic scapulae, Stillbirth, Advanced tarsal ossification, Nonimmune hydrops fetalis, Short ... OMIM:269250
Image Syndrome
Low-set ears, Depressed nasal bridge, Micromelia, Hypogonadism, Cryptorchidism, Metaphyseal dyspl... ORPHA:85173
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
Classic Phenylketonuria
Eczematoid dermatitis, Lack of skin elasticity ORPHA:79254
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Broad... OMIM:252100
Pfeiffer Syndrome Type 1
Low-set ears, Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Hearing imp... ORPHA:93258
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Finger syndactyly, Atresia of the external auditory canal, Micrognathia, Abnormal f... ORPHA:3429
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Fetal ascites, Micromelia, Flared metaphysis, Advanced tarsal ossificatio... OMIM:215045
Fetal Trimethadione Syndrome
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Micrognathia, Ambiguous genitali... ORPHA:1913
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Hypoplastic female external genitalia, Clinodactyly, Long philtrum, Anteverted... OMIM:618577
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Sensorineural hearing... ORPHA:440354
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae, Micrognathia, Narrow ... ORPHA:1234
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Mitral Valve Prolapse 1
High, narrow palate, Striae distensae, High palate OMIM:157700
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Anteverted nares, G... OMIM:300602
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Broad nasal tip, Micromelia, Bifid scrotum, Camptoda... ORPHA:1784
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Death in childhoo... OMIM:618961
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Preaxial hand polydactyly, Mi... ORPHA:3098
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Short nose, Syndactyly, Gastro... OMIM:614701
Aarskog-Scott Syndrome
Hypoplasia of the odontoid process, Clinodactyly, Cryptorchidism, Short foot, Curved linear dimpl... OMIM:305400
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Low-set ears, Short distal phalanx of finger, Depressed nasal bridge, Hypoplasia of the uterus, C... OMIM:615866
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Preaxial hand polydactyly, Penile freckling, Intestinal polyposis, Lympho... ORPHA:210548
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Small hand, Depressed nasal bridge, Clinodactyly, Recurrent otit... ORPHA:96184
Microcephaly-Micromelia Syndrome
Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Oligohydramnios,... OMIM:251230
Trigonocephaly 1
High, narrow palate, Wide nasal bridge, Long penis, Meckel diverticulum, Long philtrum, Short nose OMIM:190440
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Small hand, Toe syndactyly, Broad thumb, Finger syndacty... ORPHA:93259
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia OMIM:611263
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Depressed nasal ridge, Bifid scrotum, Low-set, posteriorly rotate... ORPHA:1912
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Clinodactyly, Downturned corners of mout... ORPHA:369891
Keratoderma Hereditarium Mutilans
Hearing impairment, Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Sensorineura... ORPHA:494
Acrocallosal Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip ve... OMIM:200990
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Radial deviation of the hand, Short thumb, Micrognathia, Narrow m... OMIM:227270
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Small hand, Finger syndactyly, Delayed eruption ... ORPHA:915
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Dental crowding, Short toe, Sandal gap, Long philtrum, Conductive hearing impairmen... OMIM:617877
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Short toe, Camptodactyly of finger, Submucou... ORPHA:3201
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Short distal phalanx of finger, Depressed nasal bridge, Hearing impairment, Ante... ORPHA:1914
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... ORPHA:2831
Metatropic Dysplasia
Depressed nasal bridge, Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Mic... ORPHA:2635
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Median cleft upper lip, High palate, ... OMIM:300484
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Depressed nasal bridge, Hemiatrophy of upper limb, Downturned corners of mouth, L... ORPHA:163649
Distal Limb Deficiencies-Micrognathia Syndrome
Microglossia, Aplasia/Hypoplasia of the radius, Microretrognathia, Conductive hearing impairment,... ORPHA:1307
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Low-set ears, Small hand, Broad thumb, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equino... ORPHA:251028
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Hearing impairment, Everted lower lip vermilion, Short nose, Pierre-Robin sequence, Abnormality o... ORPHA:364577
Distal Deletion 10P
Wide nasal bridge, Hypoplasia of penis, Hearing impairment, Macrotia, Low-set, posteriorly rotate... ORPHA:1580
Developmental And Epileptic Encephalopathy 89
Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Microretrognathia, Low-set ears,... OMIM:619124
Cenani-Lenz Syndrome
High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, ... ORPHA:3258
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Low-set ears, Finger syndactyly, Micrognathia, Perineal fistula,... ORPHA:2753
Tarp Syndrome
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ... OMIM:311900
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Low-set ears, Aplasia/Hypoplasia of the tongue, Abnormal lip ... ORPHA:2759
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Long philtrum, Narrow mouth, Arachnodactyly, Talipes equinovarus, Protruding ear... OMIM:615539
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Cupped ear, Bulbous nose, Micrognathia, Narrow mouth, Death in infancy, Arachn... ORPHA:93946
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Sensorineural hearing impairment, Abnormal metacarpal morphology, Gl... ORPHA:166100
Edinburgh Malformation Syndrome
Low-set ears, Slender finger, Ulnar deviation of finger, Choanal atresia, Downturned corners of m... ORPHA:1895
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Cryptorchidism, Microp... OMIM:616894
Foxp1 Syndrome
Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Downturned co... ORPHA:391372
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Cryptorchidism, Prominent nasal tip, Broad phalanx, Bilateral c... ORPHA:439822
Trisomy 8Q
Wide nasal bridge, Hypoplasia of penis, Camptodactyly of finger, Low-set, posteriorly rotated ear... ORPHA:1752
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Death in infancy, Thin upper lip vermilion, High palate, Short nose OMIM:615042
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Depressed nasal bridge, Metaphyseal cupping, Micromelia, Wide distal femoral metaph... OMIM:613320
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Conductive hearing impairment, Atresia of the external auditory cana... ORPHA:79113
Hall-Riggs Syndrome
Wide nasal bridge, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel... ORPHA:2107
Trisomy 12P
Wide nasal bridge, Low-set ears, Downturned corners of mouth, Micrognathia, Abnormal antihelix mo... ORPHA:1699
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Short toe, Patellar hypoplasia, Hypogonadism, Bulbous nose, External genital hyp... ORPHA:3041
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Tetrasomy 18P
Long philtrum, Low-set, posteriorly rotated ears, Narrow mouth, Achalasia, Large hands, Thin verm... ORPHA:3307
Distal Deletion 9P
High, narrow palate, Abnormality of the dentition, Wide nasal bridge, Aplasia/Hypoplasia of the e... ORPHA:1642
Fibrochondrogenesis 1
Low-set ears, Hypoplastic scapulae, Small hand, Narrow mouth, Short foot, Abnormal pinna morpholo... OMIM:228520
Stiff Skin Syndrome
Lack of skin elasticity, Sensorineural hearing impairment ORPHA:2833
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Short 5th finger, Low-set ears, Prominent fingertip pads, Long philtrum, Bil... ORPHA:485405
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty... ORPHA:989
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Hearing impairment, ... OMIM:183600
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Ad... OMIM:251450
Temple Syndrome
Precocious puberty, Bifid uvula, Small hand, Depressed nasal bridge, Clinodactyly, Recurrent otit... OMIM:616222
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Cleft upper lip, Underdeveloped na... OMIM:612916
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, Low-set ears, Micrognathia, Tented upper lip vermilion, Cryptorchidism, High p... OMIM:618388
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Low-set ears, Micromelia, Clubbing of fingers, Micrognathia, Narrow mouth, Cry... ORPHA:1865
Robinow Syndrome
Flared nostrils, Tooth malposition, Small scrotum, Low-set ears, Ankyloglossia, Micrognathia, Mar... ORPHA:97360
Hydrolethalus
Low-set ears, Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Low-set, posteriorly... ORPHA:2189
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Open mouth, Short nose OMIM:613670
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Hypospadias, Clinodactyly, Anteriorly placed anus, Downturned corners of ... OMIM:217980
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Abnormality of the uterus, Low-set, posteriorly rotated ear... ORPHA:59315
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped n... ORPHA:2315
Baker-Gordon Syndrome
Gastroesophageal reflux, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose OMIM:618218
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Low-set ears, Cleft lip, Abnormal helix morpho... ORPHA:217017
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ... OMIM:146510
Alkuraya-Kucinskas Syndrome
Low-set ears, Hand clenching, Depressed nasal bridge, Small scrotum, Clinodactyly, Overlapping to... OMIM:617822
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Agangl... OMIM:613870
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Short toe, Anteriorly placed ... OMIM:239300
Ruvalcaba Syndrome
Small hand, Synostosis of carpal bones, Micromelia, Dental crowding, Narrow mouth, Cryptorchidism... ORPHA:3121
Marshall Syndrome
Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen... OMIM:154780
Orofaciodigital Syndrome Iv
Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micro... OMIM:258860
Raine Syndrome
Low-set ears, Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal d... OMIM:259775
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Recurrent otitis media, Cryp... OMIM:616910
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Slender finger, Choanal atresia, Conductive hearing impairment, Atresia of the exte... OMIM:610536
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Sandal gap, Long philtrum, Macrotia, ... OMIM:617061
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal ... OMIM:300863
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wide mouth, Short nose ORPHA:2429
Hutchinson-Gilford Progeria Syndrome
Prominent ear helix, Ankyloglossia, Micrognathia, Short lingual frenulum, Narrow mouth, Female hy... ORPHA:740
Distal Duplication 5Q
Low-set ears, Carious teeth, Absent thumb, Eczematoid dermatitis, Long philtrum, Macrotia, Microg... ORPHA:96097
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Intestinal malrotation, ... OMIM:617602
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Gastroesophageal reflux, Abnormal elasticity of skin, Dry skin, Cryptorchidism, Follicular hyperk... ORPHA:486815
Prolidase Deficiency
Depressed nasal bridge, Eczematoid dermatitis, Skin ulcer, Micrognathia, Petechiae, Crusting eryt... OMIM:170100
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Hearing impairment, O... ORPHA:1507
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Hypospadias, Short nose OMIM:300581
Pfeiffer Syndrome Type 3
Low-set ears, Choanal atresia, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Depres... ORPHA:93260
Cardioacrofacial Dysplasia 1
Conical tooth, Diastema, Genu valgum, Postaxial polydactyly, Limb undergrowth, Overhanging nasal ... OMIM:619142
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft... OMIM:602483
Cebalid Syndrome
Low-set ears, Depressed nasal bridge, Depressed nasal ridge, Hearing impairment, Anteverted nares... OMIM:618774
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Low-set ears, Short toe, Soft, doughy skin, Micrognathia, Blepharochalasis, Fr... OMIM:225410
Hypomandibular Faciocranial Dysostosis
Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Abnormal morphology of female intern... ORPHA:1790
Rafiq Syndrome
Wide nasal bridge, Low-set ears, Bulbous nose, Prominent nose, Underdeveloped nasolabial fold, Th... OMIM:614202
Zimmermann-Laband Syndrome
Soft skin, Bifid uvula, Large fleshy ears, Bulbous nose, Abnormal external genitalia, Micrognathi... ORPHA:3473
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Cleft lip, Clinodactyly, Decreased testicular size, Hypogonadotropic hypogonadism, Micro... OMIM:614838
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Talipes equinovarus, Tongue atrophy, Dysphagia ORPHA:496689
Endocrine-Cerebroosteodysplasia
Low-set ears, Small scrotum, Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia... OMIM:612651
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Aplasia/Hypoplasia of the uvula, Low-set, posteriorl... ORPHA:1597
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Gastroesophageal reflux, Hearing impairment, Long philtrum, Macrotia, Microgna... OMIM:620250
Bainbridge-Ropers Syndrome
Low-set ears, Hand clenching, Micrognathia, Cryptorchidism, Arachnodactyly, Everted lower lip ver... OMIM:615485
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Cryptorchidi... ORPHA:1263
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Micromelia, Camptodactyly of finger, Furrowed tongue, Brachydactyly ORPHA:2928
Seckel Syndrome 5
Low-set ears, Clitoral hypertrophy, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Pro... OMIM:613823
Intellectual Disability-Strabismus Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Talipes e... ORPHA:363528
3C Syndrome
High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Low-set ... ORPHA:7
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the tongue, Long philtrum, Glandular hypospadias... ORPHA:1358
Difference Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Downturned corners of mouth, Hypogonadism, Low-set, posteriorly rotated ears, Genu... ORPHA:2983
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Low-set ears, Carious teeth, Underdeveloped nasal alae, Bifid scrotum, Macroti... OMIM:613026
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Long hallux, Anteverted nares, Tented upper lip vermilion, Thin upper ... OMIM:619854
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Sensorineural hearing impairment OMIM:618379
Blomstrand Lethal Chondrodysplasia
Low-set ears, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Natal tooth, Depressed nasal br... ORPHA:50945
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Ascites... OMIM:614091
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Anosmia, Bifid scrotum, Genu valgum, Thin upper lip vermilion, Hy... ORPHA:1295
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Eosinophilic microabscess formatio... ORPHA:411696
Cardioacrofacial Dysplasia 2
Conical tooth, Postaxial foot polydactyly, Genu valgum, Tented upper lip vermilion, Hypodontia, P... OMIM:619143
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Narrow nasal ridge, Deep philtrum, ... OMIM:137550
Codas Syndrome
Depressed nasal bridge, Crumpled ear, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:1458
Robinow Syndrome, Autosomal Dominant 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S... OMIM:180700
Gaucher Disease, Perinatal Lethal
Low-set ears, Depressed nasal bridge, Everted upper lip vermilion, Ascites, Anteverted nares, Mic... OMIM:608013
Solar Urticaria
Angioedema, Abnormal tongue morphology, Abnormal lip morphology, Periorbital edema, Pruritus, Edema ORPHA:97230
Intellectual Developmental Disorder, Autosomal Dominant 62
Arachnodactyly, Striae distensae OMIM:618793
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Nicolaides-Baraitser Syndrome
Wide nasal base, Broad 2nd toe, Short lingual frenulum, Cryptorchidism, Excessive wrinkled skin, ... OMIM:601358
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Broad nasal tip, Clinodactyly, Long philtrum, Branchial cyst... OMIM:615583
4Q21 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Small hand, Toe syndactyly, Depressed nasal bridge, M... ORPHA:238750
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Cutis laxa ORPHA:79148
Poikiloderma With Neutropenia
Depressed nasal bridge, Carious teeth, Palmoplantar keratoderma, Long philtrum, Underdeveloped na... OMIM:604173
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Hearing impairment, Hypogonadism... OMIM:302950
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Microretrognathia, Carious teeth, Finger... ORPHA:1786
16P11.2P12.2 Microdeletion Syndrome
Low-set ears, Toe syndactyly, Microretrognathia, Gastroesophageal reflux, Hearing impairment, Cam... ORPHA:261211
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Short thumb, Underdeveloped nasal alae, Overlapping toe, Micrognathia, Abnor... ORPHA:436003
Burn-Mckeown Syndrome
Bifid uvula, Choanal atresia, Conductive hearing impairment, Bilateral choanal atresia, Cleft upp... OMIM:608572
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Sensorineural hearing impairment, Hypodontia... OMIM:616029
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Bulbous nose, Micrognathia, Open mouth, Narrow mouth, Anteverted nares, Talipes ... OMIM:615065
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Cardiofaciocutaneous Syndrome
Dry skin, Genu valgum, Cryptorchidism, Excessive wrinkled skin, High palate, Hyperkeratosis, Macr... ORPHA:1340
Epilepsy, Progressive Myoclonic, 9
Microglossia, Short thumb OMIM:616540
Moebius Syndrome
Finger syndactyly, Hearing impairment, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hyp... ORPHA:570
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Toe syndactyly, Gastroesophageal r... ORPHA:819
Baraitser-Winter Syndrome 1
Wide nasal bridge, Low-set ears, Long philtrum, Cleft upper lip, Anteverted nares, Cryptorchidism... OMIM:243310
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of metacarpals, Broad proximal phalanges of the hand, Metaphyseal cupping, Ab... ORPHA:174
Oculofaciocardiodental Syndrome
Tooth malposition, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Radioulnar ... ORPHA:2712
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Low-set ears, Dental crowding, Cupped ear, Conductive hearing impairment, Micr... OMIM:616367
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the epiphyses of the feet, Genu valgum,... ORPHA:166002
Pfeiffer Syndrome
Choanal atresia, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneou... OMIM:101600
Osteoglophonic Dysplasia
Low-set ears, Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Chorde... OMIM:166250
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Depressed nasal bridge, Radial deviation of the hand, Short tibia, Shor... ORPHA:2756
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Micrognathia, Open mouth, Everted lower lip vermilion, Short foot, Short nose, Depr... OMIM:156200
Arthrogryposis, Distal, Type 2A
Hearing impairment, Pursed lips, Narrow mouth, Cryptorchidism, Talipes equinovarus, Flexion contr... OMIM:193700
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Small hand, Natal tooth, Dental crowding, Long philtru... OMIM:145420
16P13.11 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Gastroesophageal reflux, Atresia of the external auditory c... ORPHA:261236
Autosomal Dominant Robinow Syndrome
Low-set ears, Finger syndactyly, Hearing impairment, Open bite, Micrognathia, Cryptorchidism, Ano... ORPHA:3107
X-Linked Intellectual Disability, Cantagrel Type
Gastroesophageal reflux, Tented upper lip vermilion, Shawl scrotum, Short philtrum, Short nose ORPHA:85277
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, 11 pairs of ribs, Micrognathia, Prominent nasal bridge, Glossoptosis, Cleft pa... OMIM:618356
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Bifid scrotum, Low-set, posteriorly r... ORPHA:363659
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Postaxial foot polydactyly, Micrognathia, Abnormal gastrointestinal tract morpholog... ORPHA:404440
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Long philtrum, Open bite, Anteverted nares, Micrognathia, Prominent nasal brid... ORPHA:1974
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Low-set ears, Broad columella, Long philtrum, Overlapping fingers, Overlapping... OMIM:619383
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Rudimentary fibula, Ut... ORPHA:958
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Low-set ears, Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb... OMIM:151210
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, 2-3 finger syndacty... ORPHA:435638
Ring Chromosome 22 Syndrome
Wide nasal base, Lymphedema, Macrotia, Bulbous nose, Azoospermia, Pleural effusion, Protruding to... ORPHA:1446
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Long philtrum, Abnormal palate morphology, Postaxial hand polydactyly, Short nose ORPHA:1389
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Long philtrum, Open mouth, Cr... OMIM:616638
Feingold Syndrome
Deviation of the 2nd finger, Depressed nasal bridge, Toe syndactyly, Anteverted nares, Micrognath... ORPHA:1305
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Broad hallux, Long philtrum, Bulbous nose, Anteverted nares, Tented upper... OMIM:614105
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equinovarus, High p... OMIM:611209
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Death in early adulthood, Sensorineural hearing impairment, Oro... ORPHA:79107
Musculocontractural Ehlers-Danlos Syndrome
Hearing impairment, Narrow mouth, Cryptorchidism, High palate, Recurrent skin infections, Abnorma... ORPHA:2953
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Choanal atresia, Low-set ears, Downturned corners of mouth, Bila... ORPHA:2409
Al-Raqad Syndrome
Low-set ears, Sandal gap, Narrow mouth, Thin upper lip vermilion, Brachydactyly, Short nose OMIM:616459
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Abnormal limb bone morphology, Limb undergrowth ORPHA:2204
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microglossia, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial c... ORPHA:1972
Stickler Syndrome, Type Ii
High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Sensori... OMIM:604841
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Clinodactyly, Finger syndactyly, Hearing impairment, Micrognathia,... ORPHA:2710
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Acne inversa, Eczematoid dermatitis, Underdeveloped nasal alae, Furrowed tongu... OMIM:301845
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Bulbous nose, Microdontia, Short sternum, ... OMIM:258850
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, As... OMIM:253250
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Broad nasal tip, Conductive hearing impairment, Atresia of the e... OMIM:239800
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Furrowed tongue, Gingival overgrowth, Tracheoes... ORPHA:1839
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Depressed nasal bridge, Gastroesophageal reflux, Bulbous nose, Tented upper lip ver... ORPHA:261144
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Acne inversa, Eczematoid dermatitis, Orthokeratosis, Conca... OMIM:617337
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Natal tooth, Neonatal death, Short foot, Abnormal pinna morph... OMIM:269860
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Dry skin, Cr... ORPHA:1812
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Open mouth, Short philtrum, Short nose ORPHA:228384
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Tented upper lip vermilion, Open mouth, Uplifted earlobe, Macroorchidism, Short ... OMIM:300143
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Clinodactyly, Anteriorly placed anus, Macrotia, Anteverted nares, ... OMIM:619980
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted na... OMIM:614069
Meckel Syndrome, Type 9
Talipes equinovarus, Ambiguous genitalia, Limb undergrowth OMIM:614209
Oculomaxillofacial Dysostosis
Wide nasal bridge, Abnormality of the dentition, Tessier cleft, Abnormality of the nose, Underdev... ORPHA:1794
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Conductive hearing impairment, Aglossia, Micrognathia, Narrow mouth, ... OMIM:202650
Microphthalmia, Syndromic 8
Cleft upper lip, Premature skin wrinkling, Cryptorchidism, Orofacial cleft, Cleft palate, Widely-... OMIM:601349
Peho Syndrome
Open mouth, Tented upper lip vermilion, Edema of the dorsum of hands, Short nose, Edema of the do... OMIM:260565
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Narro... OMIM:617746
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Downturned corners of mouth, Long philtrum, Macrotia, Anteverted na... ORPHA:391408
19P13.13 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Clinodactyly, Sandal gap, Macrotia, Functional abnormality ... ORPHA:357001
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Gas... OMIM:147060
C Syndrome
Toe syndactyly, Micrognathia, Female pseudohermaphroditism, Cryptorchidism, Dislocated radial hea... ORPHA:1308
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Broad hallux, Hearing impairment, Tented upper... OMIM:614749
Atypical Werner Syndrome
Skin ulcer, Finger clinodactyly, Neoplasm of the oral cavity, Hypogonadism, Micrognathia, Neoplas... ORPHA:79474
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Gastroesophageal reflux, Hearing impairment, Micrognathia, Tented upper l... OMIM:619833
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Hearing impairment, Micrognathia, Cryptorchidism, Talipes equinovaru... OMIM:609945
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Abnormal pinn... OMIM:617925
Opsismodysplasia
Low-set ears, Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal... OMIM:258480
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Sandal gap, Bulbous nose, Open... OMIM:618430
Nablus Mask-Like Facial Syndrome
Low-set ears, Clinodactyly, Narrow mouth, Cryptorchidism, Short hallux, Everted lower lip vermili... OMIM:608156
Leukodystrophy, Hypomyelinating, 10
Low-set ears, Hypoplasia of the antihelix, Hearing impairment, Long philtrum, Bulbous nose, Antev... OMIM:616420
Developmental And Epileptic Encephalopathy 80
Wide nasal bridge, Short distal phalanx of finger, Low-set ears, Hearing impairment, Long philtru... OMIM:618580
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Brachydactyly, Advanced ossification of... OMIM:614613
Tetrasomy 5P
Wide nasal bridge, Low-set ears, Long philtrum, Overlapping toe, Micrognathia, Anteverted nares, ... ORPHA:3309
Stickler Syndrome Type 1
Sensorineural hearing impairment, Long philtrum, Cleft palate, Short nose ORPHA:90653
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,... ORPHA:90652
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Clinodactyly, Protruding tongue, Cryptorchidism, Sensorineural hearing impairment, ... OMIM:301040
Apert Syndrome
Bifid uvula, Choanal atresia, Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Delayed... ORPHA:87
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, External genital hypoplasia, Cryptorchidism, Death in infancy, Neonata... OMIM:613390
Ehlers-Danlos Syndrome, Hypermobility Type
Striae distensae, Hyperextensible skin, Soft skin OMIM:130020
Pili Torti-Onychodysplasia Syndrome
Cleft lip, Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Cutaneous syndactyly, Abnor... ORPHA:2890
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Short mandibular rami, Microtia OMIM:141300
Desmosterolosis
Low-set ears, Bifid uvula, Depressed nasal bridge, Micromelia, Abnormality of the nose, Abnormal ... ORPHA:35107
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Short distal phalanx of finger, Anal stenosis, Gastroesophageal reflux, Depressed n... OMIM:614080
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Coxa valga, Adducted thumb, Advanced ossification of carpal bones... OMIM:620269
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Hearing impairment, Bulbous nose, Prominent nasal bridge, Smooth philtrum... OMIM:618828
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Low-set ears, Cleft lip, Microretrognathia, Downturned corners of mouth, Long ... OMIM:618571
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Dry skin, Death in infancy, Postaxial polydactyly, Enamel hy... OMIM:614576
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Clinodactyly, Cleft upper lip, Ectrodactyly, Tooth agenesis, Hyposmia, ... OMIM:147950
Braddock-Carey Syndrome 2
Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Bulbous nose, Wide mout... OMIM:619981
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Cleft lip, Preaxial polydactyly, Hamarto... OMIM:616300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Macrotia, 2-3 toe syndactyly, Long fingers, High palate, Short nose, Tapered f... OMIM:218000
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Narrow nasal bridge, Abnormal ... ORPHA:2639
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Small scrotum, Underdeveloped nasal alae, Camptodactyly of finger, Macrotia, Micrognathia, Promin... ORPHA:2083
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Rhizomelia, Dry skin, Limb undergrowth, Abnormal metaphysis morphology ORPHA:177
Microform Holoprosencephaly
Choanal atresia, Hypoplasia of penis, Narrow nasal bridge, Anteverted nares, Tented upper lip ver... ORPHA:280200
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory... OMIM:277170
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Exaggerated median tongue furrow, Micrognathia, Sensorineural hearing impairment, E... OMIM:608670
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Anteverted nares, Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Sens... OMIM:612938
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, D... ORPHA:1791
46,Xy Sex Reversal 4
Depressed nasal ridge, Hypoplasia of the uterus, Long philtrum, Gonadal dysgenesis, Recurrent oti... OMIM:154230
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Anteriorly place... ORPHA:1225
Schwartz-Jampel Syndrome, Type 1
Abnormal femoral epiphysis morphology, Low-set ears, Micromelia, Pursed lips, Anterior bowing of ... OMIM:255800
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Eczematoid dermatitis, Abnormal earlobe morphology, Recurrent otitis media, Con... ORPHA:500159
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Long philtrum, Thick vermilion border ORPHA:833
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Gastroesophageal reflux, Downturned corners of mouth, Broad columella, Wi... OMIM:617865
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Microdontia, Thin upper lip ve... ORPHA:1915
Deafness-Craniofacial Syndrome
Wide nasal bridge, Abnormality of the dentition, Underdeveloped nasal alae, Short lingual frenulu... ORPHA:3241
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Gastroesophageal reflux, Macrotia, Bulbous nose, Thin upper lip vermilion, Sho... OMIM:620292
Man1B1-Cdg
Wide nasal bridge, Eclabion, Low-set ears, Prominent nose, Underdeveloped nasolabial fold, 2-3 to... ORPHA:397941
Desmosterolosis
Low-set ears, Rhizomelia, Hypoplastic nasal bridge, Cupped ear, Ambiguous genitalia, female, Ante... OMIM:602398
Atelosteogenesis Type I
Low-set ears, Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossificat... ORPHA:1190
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Delayed eruption of teeth, Narrow nose, Micrognathia, Prominent n... OMIM:601812
Bartsocas-Papas Syndrome 1
Low-set ears, Hypoplastic scapulae, Dry skin, Micrognathia, Talipes equinovarus, Hypoplastic labi... OMIM:263650
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Depressed nasal bridge, Cryptorchidism, Metaphyseal dysplasia, Micropenis, Hypospad... OMIM:614732
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Long philtrum, Recurrent otitis media, Penile freckling, Cutis laxa, High... OMIM:605309
Trichothiodystrophy 1, Photosensitive
Macrotia, Hypogonadism, Dry skin, Intestinal obstruction, Death in infancy, Triangular mouth, Pro... OMIM:601675
Psoriasis 14, Pustular
Erythema, Furrowed tongue, Psoriasiform dermatitis, Pustule, Parakeratosis, Geographic tongue OMIM:614204
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Hearing impairment, Recurrent otitis media, Dry skin... OMIM:129400
Plummer-Vinson Syndrome
Narrow mouth, Pallor, Intra-oral hyperpigmentation, Esophageal web, Dysphagia, Glossitis, Cheilit... ORPHA:54028
Dpm1-Cdg
High, narrow palate, Depressed nasal bridge, Sandal gap, Long hallux, External genital hypoplasia... ORPHA:79322
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Oligohydramnios, Patellar aplasia, Radioulnar synostosis, ... OMIM:617604
Donnai-Barrow Syndrome
Depressed nasal bridge, Abnormality of the uterus, Intestinal malrotation, Sensorineural hearing ... ORPHA:2143
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Short distal phalanx of finger, Clinodactyly, Hearing impairment, Brachydactyly, Sh... OMIM:614261
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Depressed nasal bridge, Micromelia, Long philtrum, Short ribs, Postaxial polydactyl... OMIM:617895
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Meckel diverticulum, Thick nasal alae, Micrognathia, Posteriorly rotated ears, Dysp... ORPHA:163961
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili... ORPHA:177907
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Macs Syndrome
Wide nasal bridge, Eclabion, Long philtrum, Recurrent aphthous stomatitis, Micrognathia, Gingival... OMIM:613075
Orofaciodigital Syndrome V
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hearing impairment, Hamartoma ... OMIM:174300
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, Carious teeth, Long philtrum, Anteverted nares, Narrow mouth, Redundant skin, Exces... OMIM:219200
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, High palate, Abnormal pinna mor... OMIM:164200
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Micromelia, Abnormal diaphysis morphology, Anteverted nares, A... ORPHA:1842
Stuve-Wiedemann Syndrome 1
Wide nasal base, Low-set ears, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal... OMIM:601559
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Low-set ears, Depressed nasal bridge, Small scrotum, Hearing impairment, Finger clinodactyly, Lon... OMIM:601353
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Pseudoachondroplasia
Abnormal femoral epiphysis morphology, Hypoplasia of the odontoid process, Short femoral neck, Fl... ORPHA:750
3Q29 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Gastroesophageal reflux, Dental crowding, Macrotia, P... ORPHA:65286
Bohring-Opitz Syndrome
Low-set ears, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Dislocated rad... OMIM:605039
Acromesomelic Dysplasia 1
Acromesomelia, Redundant skin on fingers, Radial bowing, Short toe, Flared metaphysis, Long hallu... OMIM:602875
Thanatophoric Dysplasia
Low-set ears, Depressed nasal bridge, Micromelia, Hearing impairment, Increased nuchal translucen... ORPHA:2655
Congenital Disorder Of Glycosylation, Type 2V
Wide nasal bridge, Low-set ears, Gastroesophageal reflux, Underdeveloped nasal alae, Bulbous nose... OMIM:619493
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Recurrent upper respiratory tract infections, Diastema, Furrowed ... OMIM:300534
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Sensorineural hearing impairment, Edema of the dorsum of hands, Hypodontia, ... ORPHA:544503
Antley-Bixler Syndrome
Choanal atresia, Long philtrum, Camptodactyly of finger, Low-set, posteriorly rotated ears, Antev... ORPHA:83
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Depressed nasal bridge, Eczematoid dermatitis, Dry skin, Cutis laxa, Hyperkeratosis... OMIM:612379
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Depressed nasal bridge, Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Long philt... OMIM:618870
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Choanal atresia, Depressed nasal ridge, Broad proximal phalanges of the hand... OMIM:607597
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of tongue, Intestinal malrota... OMIM:613091
Recombinant 8 Syndrome
Low-set ears, Small scrotum, Hearing impairment, Micrognathia, Patellar aplasia, Cryptorchidism, ... ORPHA:96167
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Depressed nasal bridge, Long philtrum, Bifid scrotum, Anteverted nares, Micrognathi... OMIM:257300
Nager Syndrome
Aplasia/Hypoplasia of the radius, Hearing impairment, Non-midline cleft of the upper lip, Atresia... ORPHA:245
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Ascites, Petechiae, Ecchymosis, Esophageal varix, Hepatocellular carcinoma OMIM:619463
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Macroglo... OMIM:242860
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Micromelia, Micrognathia, Narrow mouth, Cryptorchidism, Neonatal death, Bowing... OMIM:224410
ERI1-related disease
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Velopharyngeal insufficiency... OMIM:608739
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Choanal atresia, Tessier cleft, Deviation of finger, Low-set,... ORPHA:1104
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Short tibia, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, High pa... OMIM:268305
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Death in infancy, Abnormal intestine m... ORPHA:1318
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Low-set, posteriorly rotated ears, Narrow in... ORPHA:990
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, High palate, Hyperkeratosi... OMIM:115150
Linear Skin Defects With Multiple Congenital Anomalies 2
Posteriorly rotated ears, Sandal gap, Long philtrum, Short nose OMIM:300887
Distal Deletion 10Q
Low-set ears, Clinodactyly, Micrognathia, High palate, Anal atresia, Short nose, Prominent finger... ORPHA:96148
Apert Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hearing impairment, Cutaneous finger ... OMIM:101200
Marshall-Smith Syndrome
Choanal atresia, Conductive hearing impairment, Anteverted nares, Gingival overgrowth, Open mouth... ORPHA:561
Schisis Association
Unilateral cleft lip, Micromelia, Tracheoesophageal fistula, Anal atresia, Cleft palate ORPHA:63862
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, External genital hypoplasia, Micrognathia, Thin upper lip vermilion, Deep ph... ORPHA:329178
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Microretrognathia, Sandal... OMIM:616835
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Depressed nasal bridge, Natal tooth, Volvulus, Bilateral conductive hearing impairm... OMIM:617802
Ehlers-Danlos Syndrome, Classic-Like, 1
Ambiguous genitalia, female, Striae distensae, Hyperextensible skin, Hiatus hernia, Bicornuate ut... OMIM:606408
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death OMIM:273680
Seckel Syndrome 2
Microglossia, Prominent nose, Micrognathia, Microdontia, Clinodactyly of the 5th finger, Hypospadias OMIM:606744
Noonan Syndrome 7
Low-set ears, Depressed nasal bridge, Large earlobe, Abnormal esophagus morphology, Thick vermili... OMIM:613706
Orofaciodigital Syndrome Type 6
Micrognathia, Foot polydactyly, High palate, Syndactyly, Midline notch of upper alveolar ridge, B... ORPHA:2754
Weiss-Kruszka Syndrome
Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Anteverted nares, Overfol... OMIM:618619
Odontochondrodysplasia 1
Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Micromelia, Delayed eruption of teeth,... OMIM:184260
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Bifid nasal tip, Toe syndactyly, Broad nasal tip, Short tibia, Medi... OMIM:258865
Microlissencephaly-Micromelia Syndrome
Micromelia, Long philtrum, 11 pairs of ribs, Adducted thumb, Polyhydramnios, Palpebral edema, Sho... ORPHA:50810
Cerebrooculonasal Syndrome
Low-set ears, Conductive hearing impairment, Downturned corners of mouth, Long philtrum, Probosci... OMIM:605627
Achondrogenesis, Type Ib
Micromelia, Short ribs, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Dysostosis, Stanescu Type
Abnormality of the dentition, Carious teeth, Micromelia, Tooth agenesis, Abnormal dental enamel m... ORPHA:1798
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Micromelia, Hearing impairment, Increased nuchal translucency, Redundant ... ORPHA:93274
Hartnup Disorder
Glossitis OMIM:234500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Hypoplastic scapulae, Clinodactyly, Abnormal earlobe morphology, Abnormal female ex... ORPHA:95699
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Low-set ears, Delayed eruption of teeth, Thick upper lip vermilion, Anteverted... OMIM:247200
Marshall Syndrome
Wide nasal bridge, Abnormality of the dentition, Depressed nasal bridge, Long philtrum, Thick low... ORPHA:560
Ectopia Lentis 1, Isolated, Autosomal Dominant
Arachnodactyly, Striae distensae, High palate OMIM:129600
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Diaphys... OMIM:620663
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Sensorineural hear... OMIM:614207
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Cryptorchidism, Wide nasal ridge, Polyda... ORPHA:531151
Gm1 Gangliosidosis
Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Coarse meta... ORPHA:354
Fibromuscular Dysplasia, Multifocal
Dental crowding, Soft, doughy skin, Narrow nose, Striae distensae, Micrognathia, Hyperextensible ... OMIM:619329
Trisomy 20P
Finger syndactyly, Micrognathia, Cryptorchidism, Abnormal antihelix morphology, Everted lower lip... ORPHA:261318
Leukocyte Adhesion Deficiency Type Ii
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Small earlobe, Conductive heari... ORPHA:99843
Toluene Embryopathy
Low-set ears, Micrognathia, Cryptorchidism, Protruding ear, Smooth philtrum, Thin vermilion borde... ORPHA:1920
Tetraamelia Syndrome 2
Low-set ears, Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Bilateral cleft lip, Microp... OMIM:618021
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910