Gene Summary

Name:
conserved helix-loop-helix ubiquitous kinase
Synonyms:
IKKalpha,  IkappaB kinase alpha,  IKK[a],  IKK1,  IKK 1,  IKK-1,  IKK-alpha,  Chuk1,  IKK alpha

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Chukem1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal digit morphology Chukem1(IMPC)Ccpcz HET   Early adult 1.77×10-06

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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 Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Toes, Space Between First And Second
Sandal gap OMIM:189230
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hallux Varus-Preaxial Polysyndactyly Syndrome
Clinodactyly of the 5th finger, Sandal gap ORPHA:2110
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Monosomy 9P
Abnormality of the vertebral column, Cleft palate, Short nose, Malar flattening, Proximal placeme... ORPHA:261112
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Hypotrichosis Simplex Of The Scalp
Fine hair, Atopic dermatitis, Allergic rhinitis, Alopecia of scalp, Pruritus, Parakeratosis, Slow... ORPHA:90368
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Cloverleaf skull, Proximal placement of thumb, Low-set ears, Micrognathia, Bowing of... ORPHA:93267
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Midface retrusion, Short nose, Cubitus valgus, Abnormal form of the vertebral bodi... ORPHA:1327
8Q22.1 Microdeletion Syndrome
Underfolded helix, Sparse eyelashes, Telecanthus, Abnormal hair pattern, Finger syndactyly, Campt... ORPHA:178303
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Parakeratosis, Hypergranulosis, Congenital no... ORPHA:79395
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Apert Syndrome
Brachyturricephaly, Cleft palate, Corneal erosion, Cloverleaf skull, Aplasia/Hypoplasia of the th... ORPHA:87
Bazex Syndrome
Acanthosis nigricans, Yellow nails, Nail dystrophy, Palmoplantar keratoderma, Pruritus, Edema, Pa... ORPHA:166113
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... OMIM:272150
Costello Syndrome
Abnormal hair morphology, Abnormal dental enamel morphology, Delayed skeletal maturation, Woolly ... ORPHA:3071
Porokeratosis
Pruritus, Squamous cell carcinoma of the skin ORPHA:79358
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Parakeratosis, Congeni... OMIM:601952
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Scarf Syndrome
Hypoplastic nipples, Abnormal form of the vertebral bodies, Diastasis recti, Low posterior hairli... ORPHA:3134
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Nail dystrophy, Palmoplantar keratoderma, Erythema, Parakeratosis, Woolly hair, Leukony... OMIM:615821
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hirsutism, Short toe, Short phalanx of finger, Blepharochalasis, Umbilical hernia, Micrognathia, ... OMIM:225410
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Marshall-Smith Syndrome
Omphalocele, Overfolded helix, Short nose, Malar flattening, Hearing impairment, Atlantoaxial dis... OMIM:602535
Momo Syndrome
Underfolded helix, Smooth philtrum, Congenital pseudoarthrosis of the clavicle, Delayed eruption ... ORPHA:2563
Aarskog-Scott Syndrome
Cleft palate, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Megalocornea, Campto... ORPHA:915
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Alopecia, Nail dystrophy, Parakeratosis, Congenital nonbullous icht... ORPHA:100976
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 5th metacarpal, Curved distal phalanx of the thumb, Short palpebral fissure, Thin upper lip... ORPHA:370010
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Finger syndactyly, Anteverted nares, Sparse hair, Hypodontia, ... ORPHA:1515
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Abnormal phala... ORPHA:498359
Mandibulofacial Dysostosis, Guion-Almeida Type
Cleft palate, Overfolded helix, Short nose, Malar flattening, Proximal placement of thumb, Teleca... OMIM:610536
Scarf Syndrome
Hypoplastic nipples, Abnormal form of the vertebral bodies, Diastasis recti, Low posterior hairli... OMIM:312830
Kniest Dysplasia
Cleft palate, Pierre-Robin sequence, Aplasia/hypoplasia of the extremities, Bilateral ptosis, Sho... ORPHA:485
Cornelia De Lange Syndrome 1
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Hypoplastic nipples, Hirsutism, Phocomelia, C... OMIM:122470
Momo Syndrome
Thick lower lip vermilion, Underfolded helix, Smooth philtrum, High palate, Brachycephaly, Long p... OMIM:157980
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Malar flattening, Epicanth... ORPHA:217340
Fibrochondrogenesis 1
Omphalocele, Broad ischia, Cleft palate, Short nose, Malar flattening, Joint contracture of the h... OMIM:228520
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Hirsutism, Partial fusion of carpals, Delayed eruption of teeth, Camptoda... OMIM:305620
Pierpont Syndrome
Smooth philtrum, Long upper lip, Malar flattening, Telecanthus, Hearing impairment, Thin upper li... ORPHA:487825
Pierpont Syndrome
Smooth philtrum, Long upper lip, Large fleshy ears, Short nose, Malar flattening, Telecanthus, He... OMIM:602342
Robinow Syndrome, Autosomal Recessive 2
Omphalocele, Short nose, Absent uvula, Camptodactyly, Anteverted nares, Low-set ears, Triangular ... OMIM:618529
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Huriez Syndrome
Sclerodactyly, Dry skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:384
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Apert Syndrome
Pyloric stenosis, Cutaneous finger syndactyly, Brachyturricephaly, Cleft palate, Chronic otitis m... OMIM:101200
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Trisomy 18
Omphalocele, Cleft palate, Short nose, Iris coloboma, Deviation of finger, Camptodactyly of finge... ORPHA:3380
Dysosteosclerosis
Increased intervertebral space, Oligodontia, Short ribs, Delayed eruption of teeth, Absent fronta... OMIM:224300
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Lamellar Ichthyosis
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Dry skin, Aplasia/Hy... ORPHA:313
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Micrognathia, High palate, Long philtrum, Ptosis, Webbed neck, Low pos... OMIM:616549
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger,... ORPHA:163649
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Otopalatodigital Syndrome, Type I
Omphalocele, Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, ... OMIM:311300
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Parakeratosis ORPHA:83453
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis OMIM:602723
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosif... OMIM:612281
Kbg Syndrome
Cleft palate, Oligodontia, Telecanthus, Abnormal hair pattern, Delayed skeletal maturation, Thin ... ORPHA:2332
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Carpenter Syndrome 1
Omphalocele, Genu varum, Midface retrusion, Malar flattening, Joint contracture of the hand, Tele... OMIM:201000
Greenberg Dysplasia
Omphalocele, Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Malar flattenin... OMIM:215140
Feingold Syndrome
Hallux valgus, Micrognathia, Toe syndactyly, Depressed nasal bridge, Duodenal atresia, Abnormal f... ORPHA:1305
Distal Monosomy 12Q
Pyloric stenosis, 2-3 toe syndactyly, Short middle phalanx of finger, Smooth philtrum, Duodenal a... ORPHA:96149
Weill-Marchesani Syndrome 2
Short metatarsal, Broad skull, Delayed skeletal maturation, Hypoplasia of the maxilla, Umbilical ... OMIM:608328
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Alop... OMIM:614594
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Hyperkeratos... OMIM:300918
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short... OMIM:108720
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Smooth philtrum, Large fleshy ears, Telecanthus, Low-set ears, Short long bone, Unde... OMIM:263210
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Convex nasal ridge, Malar prominence, Pectus excavatum, Ptosis, Abnormal clavicle m... ORPHA:2522
Intellectual Developmental Disorder, Autosomal Dominant 23
Smooth philtrum, Bulbous nose, Thin upper lip vermilion, Anteverted nares, Low-set ears, Microgna... OMIM:615761
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Squa... OMIM:613736
Parana Hard Skin Syndrome
Thickened skin, Tapered finger, Generalized hirsutism, Hyperkeratosis ORPHA:2812
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Anonychia With Flexural Pigmentation
Convex nasal ridge, Alopecia of scalp, Abnormal hair morphology, Follicular hyperkeratosis, Hyper... ORPHA:69125
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Synophrys, Epicanthus, F... ORPHA:3268
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Woolly hair, Perioral hyperkeratosis, Hyperker... OMIM:619208
Distal Trisomy 15Q
Omphalocele, Micrognathia, High palate, Pectus excavatum, Long philtrum, Ptosis, Prominent nasal ... ORPHA:1707
C Syndrome
Omphalocele, Short nose, Fused sternal ossification centers, Accessory oral frenulum, Delayed ske... OMIM:211750
Non-Distal Trisomy 10Q
Micrognathia, Convex nasal ridge, Depressed nasal bridge, High palate, Pectus excavatum, Brachyce... ORPHA:1695
Clark-Baraitser syndrome
Thick lower lip vermilion, Broad palm, Broad nasal tip, Exaggerated median tongue furrow, Tapered... OMIM:300602
Disseminated Superficial Actinic Porokeratosis
Pruritus, Squamous cell carcinoma ORPHA:79152
Multiple Pterygium Syndrome, Escobar Variant
Cleft palate, Hypoplastic nipples, Talipes equinovarus, Syndactyly, Low-set ears, Umbilical herni... OMIM:265000
Paget Disease, Extramammary
Eczematoid dermatitis, Neoplasm OMIM:167300
Leri Pleonosteosis
Abnormality of epiphysis morphology, Upslanted palpebral fissure, Cubitus valgus, Abnormal form o... ORPHA:2900
Aminopterin Syndrome Sine Aminopterin
Cleft palate, Oligodontia, Joint contracture of the hand, Syndactyly, Low-set ears, Thoracic scol... OMIM:600325
Tarp Syndrome
Cleft palate, Talipes equinovarus, Hypoplasia of the radius, Short palpebral fissure, Anteverted ... OMIM:311900
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Porokeratosis 3, Multiple Types
Nail dystrophy, Porokeratosis, Parakeratosis OMIM:175900
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Omphalocele, Cleft palate, Undulate clavicles, Short metatarsal, Ma... OMIM:304120
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Thin anteverted nares, Brittle hair, Short nose, Palmoplantar kerato... ORPHA:2710
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Malar flattening, Abnormality of the ear, Delayed cranial suture closure, Shagreen patch, Abnorma... ORPHA:2511
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Broad palm, Broad nasal tip, Exaggerated median tongue furrow, Tapered... OMIM:300431
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Odontoma-Dysphagia Syndrome
Dysphagia, Odontoma, Abnormal esophagus morphology OMIM:164330
Neu-Laxova Syndrome
Cleft palate, Abnormal hair morphology, Rickets, Pterygium, Osteomalacia, Abnormal eyelash morpho... ORPHA:2671
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Skin ulcer ORPHA:2337
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Cardiospondylocarpofacial Syndrome
Telecanthus, Pseudoepiphyses, Delayed skeletal maturation, Anteverted nares, Conductive hearing i... OMIM:157800
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Warburg Micro Syndrome 3
Developmental cataract, Micrognathia, Shallow anterior chamber, Hypertrichosis, Low anterior hair... OMIM:614222
Cornelia De Lange Syndrome 2
Smooth philtrum, Hirsutism, Proximal placement of thumb, Thin upper lip vermilion, Anteverted nar... OMIM:300590
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity, Alopecia totalis ORPHA:1366
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Craniofrontonasal Dysplasia
Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Camptodactyl... ORPHA:1520
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Micrognathia, Congenital diaphragmatic hernia, Bifid nose, Iris colobom... ORPHA:268249
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Plagiocephaly, Pectus excavatum, Butterfly vertebrae, Hypertrichosis, Duodenal atresia, Webbed ne... OMIM:619227
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Micrognathia, High palate, Hypodontia, Tapered finger, Upslanted palpebral fi... OMIM:617061
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Short nose, Broad toe, Malar flattening, Absent uvula,... OMIM:268310
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
2-3 toe syndactyly, Short middle phalanx of finger, Short pointed phalanges, Underfolded helix, B... OMIM:263540
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, Abnorm... OMIM:257850
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Nail dystrophy, Alopecia, Parakeratosis, Sparse hair, Palmoplantar hyperkeratosis, ... OMIM:242300
Turnpenny-Fry Syndrome
Malar flattening, Delayed skeletal maturation, Thin upper lip vermilion, Low-set ears, Plagioceph... OMIM:618371
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Frontometaphyseal Dysplasia
Keloids, Cleft palate, Oligodontia, Short metatarsal, Joint contracture of the hand, Hearing impa... ORPHA:1826
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Nail dystrophy, Alopecia totalis, Sclerodactyly, Camptodactyly of finger, Hyperkeratosi... OMIM:212360
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Recurrent skin infections, Ichthyosis, Hyperkeratosis, Diffuse palmoplantar hyper... ORPHA:79503
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Cleft palate, Macrotia, Downslanted palpebral fissures, Anotia, Hypoplasia of the m... OMIM:616462
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Robinow Syndrome, Autosomal Dominant 2
Short nose, Hearing impairment, Thin upper lip vermilion, Anteverted nares, Triangular mouth, Umb... OMIM:616331
Cornelia De Lange Syndrome 5
Cleft palate, Hirsutism, Telecanthus, Proximal placement of thumb, Hearing impairment, Limited el... OMIM:300882
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Low-set ea... ORPHA:363417
Vacterl With Hydrocephalus
Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Absence of the sacrum, Hypopl... ORPHA:3412
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Otopalatodigital Syndrome Type 2
Omphalocele, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Hear... ORPHA:90652
Netherton Syndrome
Allergic rhinitis, Erythroderma, Angioedema, Brittle hair, Hypernatremic dehydration, Sparse scal... OMIM:256500
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Sparse eyelashes, Limited elbow extension, Narrow vertebral interpedicular... OMIM:250250
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Tapered fi... OMIM:601668
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hemangioma, Papilloma ORPHA:464318
Mosaic Trisomy 1
Small anterior fontanelle, Omphalocele, Cleft palate, Deviation of the 5th toe, Broad toe, Comple... ORPHA:1692
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Micrognathia, Convex nasal ridge, Pectus excavatum, Abnormal hair morphology, Abnormality of the ... ORPHA:1979
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Chromosome 3Pter-P25 Deletion Syndrome
Hearing impairment, Low hanging columella, Anteverted nares, Low-set ears, Highly arched eyebrow,... OMIM:613792
Fibrochondrogenesis
Omphalocele, Cleft palate, Abnormal form of the vertebral bodies, Short ribs, Camptodactyly of fi... ORPHA:2021
Coffin-Siris Syndrome 1
Duodenal ulcer, Cleft palate, Delayed eruption of teeth, Hearing impairment, Intussusception, Del... OMIM:135900
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Cataract-Intellectual Disability-Hypogonadism Syndrome
Micrognathia, High palate, Depressed nasal bridge, Short philtrum, Brachycephaly, Ulnar deviation... ORPHA:1387
Lamb-Shaffer Syndrome
Micrognathia, Broad nasal tip, Epicanthus, Fused cervical vertebrae, Decreased head circumference... ORPHA:530983
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Kbg Syndrome
Oligodontia, Telecanthus, Syndactyly, Delayed skeletal maturation, Anteverted nares, Low posterio... OMIM:148050
Tarp Syndrome
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Abnormal hair pattern, Finger syndactyl... ORPHA:2886
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous... OMIM:275595
Proteus Syndrome
Limbal dermoid, Mandibular hyperostosis, Spinal canal stenosis, Thin bony cortex, Depressed nasal... OMIM:176920
Monosomy 5P
High palate, Abnormality of bone mineral density, Small hand, Wide nasal bridge, Low-set, posteri... ORPHA:281
Vohwinkel Syndrome, Variant Form
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Cleft palate, Short nose, Telecanthus, Hearing impairment, Cleft lip, Syndactyly, Ca... OMIM:616894
Smith-Magenis Syndrome
Cleft palate, Chronic otitis media, Short nose, Abnormal form of the vertebral bodies, Hand polyd... ORPHA:819
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Boomerang Dysplasia
Poorly ossified vertebrae, Omphalocele, Abnormality of the ulna, Aplasia/Hypoplasia of the abdomi... ORPHA:1263
Postaxial Tetramelic Oligodactyly
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger ORPHA:2730
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin, Erythema, Skin ulcer ORPHA:31112
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Kagami-Ogata Syndrome
Omphalocele, Short palpebral fissure, Diastasis recti, Anteverted nares, Hypoplasia of the maxill... OMIM:608149
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Overfolded helix, Joint co... OMIM:300373
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Alopecia, Parakeratosis, Orthokeratosis, Thick hair, Ichthyosis, Dry skin, Spar... OMIM:607626
Feingold Syndrome 1
Small anterior fontanelle, 2-3 toe syndactyly, Duodenal atresia, Hearing impairment, Short palpeb... OMIM:164280
Asymmetric Short Stature Syndrome
Micrognathia, Convex nasal ridge, Fused cervical vertebrae, Frontal bossing, Hemihypotrophy of lo... OMIM:108450
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
48,Xxyy Syndrome
Carious teeth, Cleft palate, Chronic otitis media, Abnormal dental enamel morphology, Broad jaw, ... ORPHA:10
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Mandibular p... ORPHA:1248
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Dystrophic toenail, Chronic otitis media, Abnormal dental... ORPHA:1452
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... ORPHA:79147
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Ear-Patella-Short Stature Syndrome
Cleft palate, Aplastic clavicle, Hearing impairment, Camptodactyly of finger, Delayed skeletal ma... ORPHA:2554
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Brachyturricephaly, Eczema, Cleft palate, Contracture of the distal interphalan... ORPHA:83617
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... ORPHA:439822
Trisomy 20P
Smooth philtrum, Short nose, Abnormal form of the vertebral bodies, Reduced bone mineral density,... ORPHA:261318
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Lowry-Maclean Syndrome
Small anterior fontanelle, Pyloric stenosis, Cleft palate, Short nose, Megalocornea, Low-set ears... ORPHA:2409
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Hypertrichosis, Depressed nasal bridge, Cutis laxa, Brachycephaly, Ichthyosis, Hyperkerat... OMIM:612379
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Alopecia, Sparse scalp hair, Sparse pubic hair, Perifollicular hyperkeratosis, Sparse a... ORPHA:505
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Redundant neck skin, Hypoplast... ORPHA:96334
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Malar flattening, Turricephaly, Anteverted nares, Low-set ears, Umbilical hernia, Rad... ORPHA:171839
De Barsy Syndrome
Talipes equinovarus, Delayed eruption of teeth, Small, conical teeth, Dermal translucency, Sparse... ORPHA:2962
Teebi Hypertelorism Syndrome 1
Broad palm, Omphalocele, Highly arched eyebrow, Depressed nasal bridge, Long philtrum, Ptosis, Up... OMIM:145420
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Large fleshy ears, Short nose, Telecanthus, Multiple prenatal fractures, Short ribs... OMIM:616897
Gorlin Syndrome
Carious teeth, Vertebral fusion, Vertebral wedging, Brachycephaly, Palmar pits, Hemivertebrae, Ma... ORPHA:377
Codas Syndrome
Omphalocele, Crumpled ear, Metaphyseal dysplasia, Proximal placement of thumb, Delayed eruption o... OMIM:600373
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Malar fl... OMIM:274000
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Micrognathia, Congenital bilateral ptosis, Malar flattening, Joint... OMIM:608257
Chromosome 9P Deletion Syndrome
Omphalocele, Malar flattening, Thin upper lip vermilion, Anteverted nares, Low-set ears, Choanal ... OMIM:158170
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis, Finger joint ... OMIM:615225
Otopalatodigital Syndrome Type 1
Cleft palate, Oligodontia, Proximal placement of thumb, Hearing impairment, Increased bone minera... ORPHA:90650
Acquired Ichthyosis
Pruritus, Erythema, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratos... ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis OMIM:617525
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot OMIM:190680
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cleft palate, Ectopic anus, Abnormal vertebral segmentation ... ORPHA:2345
Restrictive Dermopathy
Short nail, Small placenta, Dermal translucency, Camptodactyly of finger, Sparse hair, Large plac... ORPHA:1662
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Secondary microcephaly, Hyperkeratosis OMIM:618339
Rhombencephalosynapsis
Aganglionic megacolon, Polydactyly, Short nose, Short phalanx of finger, Low-set, posteriorly rot... ORPHA:59315
Muenke Syndrome
Short middle phalanx of finger, Capitate-hamate fusion, Malar flattening, Hearing impairment, Bro... OMIM:602849
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Asymmetry of the thorax, Delayed eruption of teeth, Increased bone mineral density,... ORPHA:2780
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Cleft palate, Talipes equinovarus, Oligodontia, Toe clinodactyly, Anteverte... ORPHA:251019
Radio-Tartaglia Syndrome
Hirsutism, Long eyebrows, Hearing impairment, Bulbous nose, Thin upper lip vermilion, Anteverted ... OMIM:619312
Fryns Syndrome
Omphalocele, Cleft palate, Duodenal atresia, Aplasia of the left hemidiaphragm, Joint contracture... OMIM:229850
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Bilateral ptosis, Short nose, Syndactyly, Thin... OMIM:614701
Brachydactyly, Type B1
Cutaneous finger syndactyly, Delayed eruption of permanent teeth, Short middle phalanx of finger,... OMIM:113000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Cleft palate, Talipes equinovarus, Spatulate thumbs, 11 pairs of ribs, Broad dista... OMIM:245600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Iris coloboma, Hearing impairment, Short palpebral fissure, Broad hallux, Thi... ORPHA:508498
Simpson-Golabi-Behmel Syndrome, Type 2
Cleft palate, Talipes equinovarus, Short nose, Thin upper lip vermilion, Anteverted nares, Low-se... OMIM:300209
Hyperphosphatasia With Mental Retardation Syndrome 6
2-3 toe syndactyly, Hip contracture, Bulbous nose, Anteverted nares, Elbow flexion contracture, L... OMIM:616809
Psoriasis 14, Pustular
Psoriasiform dermatitis, Pustule, Nail dystrophy, Erythema, Parakeratosis OMIM:614204
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... ORPHA:90280
Diastrophic Dysplasia
Cleft palate, Midface retrusion, Overfolded helix, Symphalangism affecting the phalanges of the h... ORPHA:628
Acrodysostosis
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Abnormal form of the... ORPHA:950
Focal Dermal Hypoplasia
Omphalocele, Duodenal atresia, Abnormal dental enamel morphology, Short ribs, Iris coloboma, Fing... ORPHA:2092
Koolen-De Vries Syndrome
Pyloric stenosis, Cleft palate, Overfolded helix, Abnormal dental enamel morphology, Bulbous nose... ORPHA:96169
Melnick-Needles Syndrome
Omphalocele, Short thorax, Delayed eruption of teeth, Hearing impairment, Anisospondyly, Delayed ... ORPHA:2484
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Thin anteverted nares, Cubitus valgus, 3-4 toe syndactyly, Low hangi... OMIM:164200
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Omphalocele, Smooth philtrum, Overfolded helix, Sparse pubic hair, Diastasis re... OMIM:618419
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Broad nasal tip... ORPHA:166108
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cutis laxa, Excessive wrinkled skin, Thin vermilion border, Thin skin, Dermal transluc... OMIM:614438
9P13 Microdeletion Syndrome
Highly arched eyebrow, High palate, Dry skin, Metopic synostosis, Brachycephaly, Abnormality of c... ORPHA:324313
Bartsocas-Papas Syndrome 1
Omphalocele, Cleft palate, Talipes equinovarus, Short nose, Syndactyly, Pterygium, Cicatricial la... OMIM:263650
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... OMIM:256050
Mental Retardation, Autosomal Dominant 26
Prominent nasal tip, Highly arched eyebrow, Decreased palmar creases, Wide mouth, Brachycephaly, ... OMIM:615834
Craniofacial Microsomia
Limbal dermoid, Conductive hearing impairment, Micrognathia, Cleft palate, Upper eyelid coloboma,... OMIM:164210
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Cleft palate, Short palpebral fissure, Low-set ears, Micrognathia, Depressed nasal... OMIM:616734
Ohdo Syndrome
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Ptosis... OMIM:249620
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Cleft palate, Duodenal atresia, Short nose, Joint contracture of the hand, Delayed e... OMIM:247200
Martsolf Syndrome 1
Slender ulna, Talipes equinovarus, Short toe, Hypoplasia of the maxilla, Short phalanx of finger,... OMIM:212720
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Low-set, poster... ORPHA:2370
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Hallux valgus, Talipes equinovarus, Dysplasia of the femoral head, Dermal transluc... ORPHA:536467
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Hearing impairment, Bulbous nose, Syndactyly, Camptodactyly, Low-set ears, Umbilical ... ORPHA:369891
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Cleft palate, Talipes equinovarus, Absent phalangeal crease, Webbed neck, Ante... OMIM:618469
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Short nose, Cubitus valgus, Malar flattening, Absent frontal sin... OMIM:211910
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Abnormal vertebral morphology, Short nose, Low-set, posteriorly rotat... ORPHA:2015
Mental Retardation, X-Linked 91
High palate, Short nose, Small hand, Cubitus valgus, Short 5th finger, Epicanthus, Short foot, Lo... OMIM:300577
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Mosaic Trisomy 14
Micrognathia, Cleft palate, High palate, Wide mouth, Ectopic anus, Ptosis, Low-set, posteriorly r... ORPHA:1703
Hyperkeratosis Lenticularis Perstans
Pruritus, Basal cell carcinoma, Squamous cell carcinoma, Skin ulcer ORPHA:409
Dracunculiasis
Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Skin ulcer ORPHA:231
Pseudodiastrophic Dysplasia
Micrognathia, Smooth philtrum, Talipes equinovarus, Brachycephaly, Tongue-like lumbar vertebral d... OMIM:264180
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Talipes equinovarus, Hearing impairment, Thin upper lip vermilion, Low-set ears, Protruding ear, ... OMIM:617452
Orofaciodigital Syndrome Iii
Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Kyphosis, Short ... OMIM:258850
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Tapered finger, Alopecia, Erythema,... ORPHA:317
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Micrognathia, Conductive hearing impairment, High palate, Upslanted pa... OMIM:248910
Al Kaissi Syndrome
Smooth philtrum, Telecanthus, Thin upper lip vermilion, Low-set ears, Depressed nasal bridge, Lon... OMIM:617694
Monosomy 18P
Carious teeth, Cleft palate, Low posterior hairline, Protruding ear, Micrognathia, Hypodontia, We... ORPHA:1598
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Cleft palate, Short nail, Talipes equinovarus, Short nose, Broad toe... OMIM:312870
Miller-Dieker Syndrome
Omphalocele, Short nose, Epicanthus, Sacral dimple, Abnormality of upper lip, Anteverted nares, C... ORPHA:531
Cenani-Lenz Syndrome
Short nose, Abnormal form of the vertebral bodies, Malar flattening, Hypoplasia of the radius, Fi... ORPHA:3258
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Convex nasal ridge, Cleft palate, Brachycephaly, Webbed neck, Short nose, Craniosyn... ORPHA:2145
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Developmental And Epileptic Encephalopathy 89
Omphalocele, Cleft palate, Smooth philtrum, Talipes equinovarus, Asymmetry of the ears, Neonatal ... OMIM:619124
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cleft palate, Phocomelia, Finger syndactyly, Tibial torsion, Micrognathia, Aplasia/Hy... ORPHA:3320
Crossed Polysyndactyly
Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Upslanted p... ORPHA:2935
Au-Kline Syndrome
Cleft palate, Oligodontia, Underdeveloped nasal alae, High palate, Postaxial polydactyly, Downsla... OMIM:616580
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Talipes equinovarus, Hearing impairment, Thin upper lip vermilion, Low-set ears, Toe syndactyly, ... ORPHA:505237
Pycnodysostosis
Carious teeth, Absent frontal sinuses, Increased bone mineral density, Abnormality of pelvic gird... OMIM:265800
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Catifa Syndrome
Developmental cataract, Cleft palate, Long philtrum, Mild microcephaly, Tooth malposition, Epican... OMIM:618761
Cohen Syndrome
Short metatarsal, Cubitus valgus, Thoracic scoliosis, Hypoplasia of the maxilla, Micrognathia, Na... OMIM:216550
Mosaic Variegated Aneuploidy Syndrome 1
Micrognathia, Cleft palate, Depressed nasal bridge, Brachycephaly, Long philtrum, Upslanted palpe... OMIM:257300
Chromosome 5P13 Duplication Syndrome
High palate, Short philtrum, Brachycephaly, Large hands, Long fingers, Craniosynostosis, Epicanth... OMIM:613174
Marshall Syndrome
Irregular proximal tibial epiphyses, Cleft palate, Pierre-Robin sequence, Short nose, Irregular d... OMIM:154780
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... ORPHA:281127
Frank-Ter Haar Syndrome
Buphthalmos, Redundant neck skin, Talipes equinovarus, Megalocornea, Thin upper lip vermilion, Ca... OMIM:249420
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Micrognathia, Short clavicles, Aplasia/hypoplasia of the extremities, Hypoplastic scapulae, Umbil... OMIM:308050
Pseudodiastrophic Dysplasia
Omphalocele, Talipes equinovarus, Rhizomelia, Malar flattening, Platyspondyly, Elbow dislocation,... ORPHA:85174
Larsen-Like Syndrome
Conductive hearing impairment, Radial deviation of the 4th finger, Cleft palate, Absent nasal bri... OMIM:608545
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Nail dystrophy, Hyperkeratosis OMIM:131850
Raine Syndrome
Brachyturricephaly, Cleft palate, Neonatal death, Short nose, Malar flattening, Long hallux, Incr... OMIM:259775
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Facial erythem... OMIM:603165
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Talipes equinovarus, Telecanthus, Joint contracture of the hand, Genu recurva... OMIM:182212
Axial Mesodermal Dysplasia Spectrum
Limbal dermoid, Omphalocele, Micrognathia, Abnormal intestine morphology, Abnormality of the knee... ORPHA:1834
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Cheilitis Glandularis
Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm ORPHA:1221
Rubinstein-Taybi Syndrome 2
Carious teeth, Prominent nose, Micrognathia, Convex nasal ridge, High palate, Hirsutism, Posterio... OMIM:613684
Lujan-Fryns Syndrome
Micrognathia, High palate, Pectus excavatum, Short philtrum, Brachycephaly, Prominent nasal bridg... ORPHA:776
Congenital Disorder Of Glycosylation, Type Iig
Cleft palate, Smooth philtrum, Pierre-Robin sequence, Talipes equinovarus, Hearing impairment, Th... OMIM:611209
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Short philtrum, Brachycephaly, Sparse lateral eyebrow, Short nose, Tel... OMIM:601224
Intellectual Disability, Wolff Type
Thick lower lip vermilion, Abnormal intestine morphology, Large hands, Upslanted palpebral fissur... ORPHA:3080
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Omphalocele, Depressed nasal bridge, Midface retrusion, Lat... OMIM:617895
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly of finger, Short phalanx ... OMIM:612350
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Smooth philtrum, Cleft soft palate, Peters anomaly, Downslanted palpebral fissures,... OMIM:614526
Coffin-Siris Syndrome 11
High palate, Depressed nasal bridge, Wide mouth, Cleft soft palate, Low posterior hairline, Small... OMIM:618779
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Malar flattening, Peters anomaly, Telecanthus, Short palpebral fissure, Low-set ears, ... OMIM:612582
Acrofrontofacionasal Dysostosis 2
High palate, Redundant neck skin, Brachycephaly, Ptosis, Wide nose, Overfolded helix, Posteriorly... OMIM:239710
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Smooth philtrum, Hirsutism, Rectal prolapse, Talipes equinovarus, Ol... OMIM:235510
Codas Syndrome
Crumpled ear, Overfolded helix, Short nose, Abnormal form of the vertebral bodies, Abnormal denta... ORPHA:1458
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Redundant neck skin, Diastasis recti, Camptodactyly, Anteverted nares, Large placent... ORPHA:254528
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, S... OMIM:251450
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Midface retrusion, Dystrophic toenail, Abnormal dental enamel morphology, Finger s... ORPHA:3253
Duane-Radial Ray Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short humerus, Upper li... OMIM:607323
Pachyonychia Congenita 4
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Brachycephaly, Short nose, Long eyelashes, Abnormal hair pattern, Finger syndactyly... ORPHA:1514
Chromosome 16P13.3 Duplication Syndrome
Pectus excavatum, Tapered finger, Ptosis, Long fingers, Upslanted palpebral fissure, Short nose, ... OMIM:613458
Chromosome 8Q21.11 Deletion Syndrome
Micrognathia, Protruding ear, Short philtrum, Ptosis, Epicanthus, Wide nasal bridge, Low-set ears... OMIM:614230
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Acantholysis, Mitten deformity, Neonatal death, Alopecia totalis, Sandal gap,... OMIM:609638
Trisomy 9P
Protruding ear, Dental crowding, Brachycephaly, Macrotia, Downslanted palpebral fissures, Kyphosi... ORPHA:236
Schinzel-Giedion Midface Retraction Syndrome
Hypoplastic nipples, Talipes equinovarus, Hypoplasia of first ribs, Thickened cortex of long bone... OMIM:269150
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Smooth philtrum, Hip contracture, Bulbous nose, Thin upper lip vermilion, Anteverted nares, Low-s... OMIM:616801
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Clubbing, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperker... ORPHA:2199
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Conductive hearing impairment, Widely spaced teeth, Ectopic os... OMIM:135100
Dysostosis, Stanescu Type
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... ORPHA:1798
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hirsutism, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio... OMIM:259600
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Depressed nasal bridg... ORPHA:2097
Werner Syndrome
Neoplasm of the small intestine, White forelock, Lipoatrophy, Increased bone mineral density, Hyp... ORPHA:902
Weaver Syndrome
Talipes equinovarus, Finger syndactyly, Camptodactyly of finger, Fine hair, Micrognathia, Long ph... ORPHA:3447
Distal Monosomy 10Q
Cleft palate, Smooth philtrum, Short metatarsal, Short nose, Thin upper lip vermilion, Low-set ea... ORPHA:96148
Acrocephalopolydactyly
Depressed nasal ridge, Thoracic hypoplasia, Limb undergrowth, Short nose, Epicanthus, Oxycephaly,... ORPHA:221054
20Q11.2 Microduplication Syndrome
Short nose, Limited elbow extension, Palpebral edema, Anteverted nares, Depressed nasal bridge, P... ORPHA:363659
Triploidy
Meningocele, Omphalocele, Micrognathia, Cleft palate, Wide mouth, Macroglossia, Low-set, posterio... ORPHA:3376
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Palmoplantar keratoderma, Erythema, Ichthyosis ORPHA:455
Developmental And Epileptic Encephalopathy 73
Short nose, Sensorineural hearing impairment, Hip dysplasia, Narrow nasal bridge, Cataract, Flexi... OMIM:618379
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Macrocephaly, Skin rash, Maculopapular exanthema, Hyperkeratosis ORPHA:398124
3P25.3 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... ORPHA:435638
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, ... OMIM:614450
Myopathy, Congenital, Bailey-Bloch
Conductive hearing impairment, Micrognathia, Cleft palate, High palate, Brachycephaly, Ptosis, Ky... OMIM:255995
Arthrogryposis, Distal, Type 1C
Cleft palate, Hip contracture, Talipes equinovarus, Cleft lip, Camptodactyly of finger, Elbow fle... OMIM:619110
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Hajdu-Cheney Syndrome
Cleft palate, Telecanthus, Absent frontal sinuses, Iris coloboma, Hearing impairment, Periodontit... ORPHA:955
Elastoderma
Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling ORPHA:228240
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, High palate, Low anterior hairline, Tapered finger, Brachycephaly, Long finge... OMIM:218000
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Large fontanelles, Alopecia, Breast aplasia, Osteolytic defects of the distal phalan... ORPHA:90153
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Short thorax, Short ribs, Micrognathia, Absent or minimally ossified vertebral bodie... ORPHA:93271
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Protruding ear, Umbilical he... ORPHA:137834
Femoral-Facial Syndrome
Cleft palate, Talipes equinovarus, Short nose, Thin upper lip vermilion, Low-set ears, Abnormalit... ORPHA:1988
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Micrognathia, High palate, Depressed nasal bridge, Highly arched eyebrow, Long ph... ORPHA:261120
Uruguay Faciocardiomusculoskeletal Syndrome
Prominent nose, Hallux valgus, Brachyturricephaly, Broad palm, Synophrys, Wide nose, Joint contra... OMIM:300280
Maternal Phenylketonuria
Micrognathia, High palate, Bladder exstrophy, Long philtrum, Bifid distal phalanx of the thumb, B... ORPHA:2209
Mycosis Fungoides
Neoplasm of the skin, Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphoma OMIM:254400
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Wide nasal bridge, Fused cervical vertebrae, Anal atresia, Thorac... OMIM:309620
3Mc Syndrome 1
Omphalocele, Cleft palate, Supernumerary nipple, Radioulnar synostosis, Conductive hearing impair... OMIM:257920
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Brachycephaly, Long philtrum, Short nose, Long eyelashes, Wide nasal... OMIM:618577
Distal Trisomy 18Q
Carious teeth, Short nose, Abnormal hair pattern, Iris coloboma, Deviation of finger, Camptodacty... ORPHA:1716
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormality of t... ORPHA:2141
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Fine hair, Tapered finger, Sparse and thin ey... OMIM:616202
Saethre-Chotzen Syndrome
Hallux valgus, Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormal... ORPHA:794
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Esophagitis, Hepatic steatosis, Dermal translucency, Hepatosplenomegaly, Oligoh... ORPHA:541423
Acrofacial Dysostosis, Catania Type
Carious teeth, Smooth philtrum, Short nose, Abnormal hair pattern, Finger syndactyly, Delayed ske... ORPHA:1786
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Short nose, Malar flatteni... OMIM:601559
Achondrogenesis Type 1A
Micrognathia, Long philtrum, Multiple rib fractures, Short nose, Short thorax, Frontal bossing, S... ORPHA:93299
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Cleft palate, Triphalangeal thumb, Ectopic anus, Trigonocephaly, Microtia, Arachnodactyly, Low-se... ORPHA:2994
Whistling Face Syndrome, Recessive Form
Talipes equinovarus, Microglossia, Malar flattening, Whistling appearance, Telecanthus, Short pal... OMIM:277720
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... ORPHA:1228
Hallermann-Streiff Syndrome
Sparse eyelashes, Malar flattening, Iris coloboma, Low-set ears, Sparse and thin eyebrow, Sparse ... OMIM:234100
Chromosome 2P16.1-P15 Deletion Syndrome
Telecanthus, Joint contracture of the hand, Short palpebral fissure, Thin upper lip vermilion, Ca... OMIM:612513
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Cleft palate, Smooth philtrum, Laterally extended eyebrow, Hirsutism, Hooded eyelid, Proximal pla... OMIM:610759
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Cleft palate, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Low poste... ORPHA:2916
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Micrognathia, Death in infancy, Abnormality of the calcaneus, Short philtr... ORPHA:163966
Achondrogenesis Type 1B
Micrognathia, Talipes equinovarus, Long philtrum, Short nose, Short thorax, Frontal bossing, Femo... ORPHA:93298
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal dental enamel morphology, Finger syndactyly, Turricephal... ORPHA:1005
C Syndrome
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Smooth philtrum,... ORPHA:1308
Recombinant Chromosome 8 Syndrome
Midface retrusion, Malar flattening, Joint contracture of the hand, Hearing impairment, Thin uppe... OMIM:179613
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Wide nasal bridge, Delaye... ORPHA:166024
Arthrogryposis And Ectodermal Dysplasia
Cleft palate, Trichiasis, Oligodontia, Abnormal dental enamel morphology, Joint contracture of th... OMIM:601701
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Cleft palate, Microdontia of primary teeth, Sparse eyelashes, Talipes equinovarus, Short nose, Lo... OMIM:213980
Kagami-Ogata Syndrome
Omphalocele, Diastasis recti, Anteverted nares, Large placenta, Micrognathia, Depressed nasal bri... ORPHA:254519
Wieacker-Wolff Syndrome, Female-Restricted
Cleft palate, Hip contracture, Talipes equinovarus, Anteverted nares, Microretrognathia, Radial d... OMIM:301041
Classic Mycosis Fungoides
Eczema, Pruritus, Edema, Erythema, Alopecia, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer ORPHA:2584
Acromicric Dysplasia
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... ORPHA:969
Fontaine Progeroid Syndrome
Smooth philtrum, Hypoplastic nipples, Death in infancy, Oligodontia, Neonatal death, Dermal trans... OMIM:612289
Holoprosencephaly
Omphalocele, Abnormal form of the vertebral bodies, Iris coloboma, Aplasia/Hypoplasia involving t... ORPHA:2162
Terminal Osseous Dysplasia
Cleft palate, Malar flattening, Abnormal bone structure, Telecanthus, Iris coloboma, Toe clinodac... OMIM:300244
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cleft palate, Hip contracture, Hearing impairment, Camptodactyly, Elbow flexion contracture, Vert... OMIM:178110
Isotretinoin-Like Syndrome
Micrognathia, Cleft palate, Thin anteverted nares, Upslanted palpebral fissure, Anotia, Bilateral... ORPHA:2306
Cardiofaciocutaneous Syndrome
Abnormality of the ulna, Functional abnormality of the gastrointestinal tract, Brittle hair, Shor... ORPHA:1340
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Delayed skeletal maturation, Short toe, Atresia o... ORPHA:2980
Gabriele-De Vries Syndrome
Distal arthrogryposis, Hallux valgus, Malar flattening, Telecanthus, Bulbous nose, Sydney crease,... ORPHA:506358
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Plagiocephaly, Highly arched eyebrow, Cleft palate, Diastema, Microdontia, Tal... OMIM:605282
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis ORPHA:79399
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Toe syndactyly, Conductive hearing impairment, Congenital stapes ankyl... OMIM:184460
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
48,Xxxy Syndrome
Carious teeth, Cleft palate, Talipes equinovarus, Chronic otitis media, Abnormal dental enamel mo... ORPHA:96263
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Oligodontia, Short nose, Slender finger, Thin upper lip vermilion, Ante... ORPHA:391408
German Syndrome
Micrognathia, High palate, Depressed nasal bridge, Dysphagia, Brachycephaly, Synophrys, Wide nasa... ORPHA:2077
Mullegama-Klein-Martinez Syndrome
Cleft palate, Smooth philtrum, Curly eyelashes, Cleft lip, Bulbous nose, Thin upper lip vermilion... OMIM:301022
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Brachycephaly, Upslanted palpebral fissure, Epicanthus, Narrow mouth, Cataract, Retr... ORPHA:2528
Adenylosuccinate Lyase Deficiency
Flat occiput, Brachycephaly, Prominent metopic ridge, Short nose, Anteverted nares, Microcephaly ORPHA:46
Basal Cell Nevus Syndrome
Cleft palate, Abnormal sternum morphology, Short ribs, Iris coloboma, Short 4th metacarpal, Odont... OMIM:109400
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Death in infancy, Congenital pyloric atresia, Ectropion, Atrophic scars, Nail dystrophy, Arthrogr... OMIM:226730
Sweeney-Cox Syndrome
Cleft palate, Overfolded helix, Hearing impairment, Low-set ears, Choanal atresia, Underdeveloped... OMIM:617746
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Short nose, Posteriorly rot... ORPHA:2143
Simpson-Golabi-Behmel Syndrome
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Death in infancy... ORPHA:373
15Q11Q13 Microduplication Syndrome
Epicanthus, Downslanted palpebral fissures, Finger syndactyly, Macrocephaly, Clinodactyly of the ... ORPHA:238446
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Erythema ORPHA:346
Otodental Syndrome
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Iris coloboma, Perio... ORPHA:2791
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Hernia of the abdominal wall, Abnormal palate morphology, Micrognathia, Mesomelia, Tooth agenesis... ORPHA:1277
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Cleft palate, Hirsutism, Hip contracture, Talipes equinovarus, Pierre-Robin seq... OMIM:617137
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Death in infancy, Chronic otitis media, Short nose, Finger syndactyly, Hear... ORPHA:1507
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Proximal placement of thumb, Low hanging columella, Sparse hair, Gingival overgrowth, ... OMIM:212066
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Micrognathia, Convex nasal ridge, Depressed nasal bridge, High palate, Talipes e... OMIM:266910
Odontochondrodysplasia
Death in infancy, Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short ... ORPHA:166272
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the vertebral column, Omphalocele, Eczema, Abnormal hair morphology, Corneal erosi... ORPHA:2273
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Thick lower lip vermilion, Depressed nasal bridge, Wide mouth, Macroglossia, Mandibular prognathi... OMIM:300354
Hutchinson-Gilford Progeria Syndrome
Narrow nasal tip, Prominent umbilicus, Dystrophic toenail, Delayed eruption of teeth, Reduced bon... ORPHA:740
Multiple Pterygium Syndrome, X-Linked
Depressed nasal ridge, Micrognathia, Cleft palate, Vertebral fusion, Thin ribs, Short finger, Cle... OMIM:312150
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Morphological abnormality of the gastrointesti... ORPHA:404440
Rafiq Syndrome
Smooth philtrum, Malar flattening, Bulbous nose, Thin upper lip vermilion, Low-set ears, Prominen... OMIM:614202
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Thickened calvaria, Hypoplastic frontal sinuses, Metaphysea... OMIM:265900
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Anal atresi... ORPHA:1436
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebral bodies, Hal... ORPHA:2635
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Micrognathia, Convex nasal ridge, Osteoporosis, Lipodystrophy, Kyphosis, Sensorineural hearing im... OMIM:615381
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Abnormal palate morphology, Convex nasal ridge, Brachycephaly, Pto... ORPHA:93262
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Cleft palate, Polydactyly, Stillbirth, Abnormal thorax morph... ORPHA:294975
Kennerknecht Syndrome
Toe syndactyly, Hypodontia, Convex nasal ridge, High palate, Abnormal joint morphology, Omphaloce... OMIM:600908
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Cleft palate, Smooth philtrum, Talipes equinovarus, Bulbous nose, Long hallux, Anteverted nares, ... OMIM:309583
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... ORPHA:93316
49,Xxxxy Syndrome
Carious teeth, Cleft palate, Talipes equinovarus, Chronic otitis media, Abnormal dental enamel mo... ORPHA:96264
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Pierre-Robin sequence, Short nose, 11 pairs of ribs, Anterior open-bite mal... OMIM:617877
Anauxetic Dysplasia 3
Short middle phalanx of finger, Oligodontia, Hip subluxation, Femoral bowing, Broad middle phalan... OMIM:618853
Hydrocephalus With Associated Malformations
Short lower limbs, Micrognathia, Tibial bowing, Omphalocele, Lower limb undergrowth, Intestinal m... OMIM:236640
Duane Retraction Syndrome
Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplas... ORPHA:233
Achondrogenesis
Micrognathia, Long philtrum, Abnormality of bone mineral density, Short nose, Short thorax, Ingui... ORPHA:932
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Abnormal palate morphology, Thick lower lip vermilion, Abnormal intervertebral dis... ORPHA:2701
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Pruritus, Uterine leiomyos... ORPHA:523
Donnai-Barrow Syndrome
Omphalocele, Broad nasal tip, Depressed nasal bridge, Hypoplasia of the iris, Congenital diaphrag... OMIM:222448
Cooper-Jabs Syndrome
Conductive hearing impairment, Brachycephaly, Anteriorly placed anus, Congenital diaphragmatic he... ORPHA:1488
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Smooth philtrum, Short nose, Telecanthus, Thin upper lip vermilion, Anteverted nar... OMIM:244450
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Short thorax, Curly eyelashes, Aplasia/Hypoplasia involving the pelvis, Delayed s... ORPHA:163654
Cartilage-Hair Hypoplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Metaphyseal dysplasia, Abnormal form of the... ORPHA:175
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Hip contracture, Pierre-Robin sequence, Short thorax, Hearing impair... OMIM:618363
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Hearing impairment, Syndactyly, Camptodactyly, Anteverted nares, Broad palm, High pal... OMIM:227330
Even-Plus Syndrome
Atopic dermatitis, Depressed nasal ridge, Hypodontia, High palate, Highly arched eyebrow, Coronal... OMIM:616854
Fetal Trimethadione Syndrome
Micrognathia, High palate, Depressed nasal bridge, Brachycephaly, Ptosis, Overfolded helix, Short... ORPHA:1913
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Malar flattening, Telecanthus, Hearing impairment, Synostosis of joints,... ORPHA:2496
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Richieri-Costa/Guion-Almeida Syndrome
Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, Brachycephaly, Mandibular prognathia, Cl... OMIM:268850