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Gene: Fst MGI:95586

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
follistatin
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fst mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Cervical Rib
Cervical ribs OMIM:117900
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... OMIM:181400
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Parana Hard Skin Syndrome
Short stature, Thickened skin, Respiratory insufficiency, Pectus carinatum, Growth delay, Hyperke... ORPHA:2812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Leri Pleonosteosis
Severe short stature, Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Thickened skin... ORPHA:2900
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Os odontoideum, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5... OMIM:600561
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... ORPHA:536516
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Cutis Laxa, Autosomal Recessive, Type Iib
Decreased muscle mass, Prominent superficial veins, Congenital hip dislocation, Redundant skin, B... OMIM:612940
Neuralgic Amyotrophy
Scapular winging, Short stature, Cleft palate, Respiratory insufficiency, Narrow mouth, Sprengel ... ORPHA:2901
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Micrognathia, Abnormal hair morphology, Thickened skin, Abno... ORPHA:1979
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... OMIM:617066
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... OMIM:614399
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Short neck, Dyspnea, Gingival overgrowth, Gingival fibromatos... ORPHA:1832
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Short stature, Abnormality of the dentition, Syno... ORPHA:3268
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Costello Syndrome
Short stature, Redundant skin, Abnormal dental enamel morphology, Abnormality of the dentition, A... ORPHA:3071
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly ORPHA:384
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respiratory insufficienc... ORPHA:486815
Moderate Multiminicore Disease With Hand Involvement
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance ORPHA:178145
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition OMIM:617756
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Anonychia With Flexural Pigmentation
Macular telangiectasia, Carious teeth, Abnormal hair morphology, Hyperkeratosis, Follicular hyper... ORPHA:69125
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... OMIM:300717
Lamellar Ichthyosis
Short stature, Abnormality of the dentition, Lack of skin elasticity, Hyperkeratosis, Everted low... ORPHA:313
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... OMIM:608340
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Abnormality ... ORPHA:178303
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Scoliosis, Camptodactyly, Joint contracture OMIM:617055
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of long finger extensor muscles, Upper limb muscle weakness, Hi... ORPHA:98913
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Respiratory insufficiency due to muscl... OMIM:611890
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Short neck, Flexion contracture, Knee flexion contracture, Generalized amyotrophy, ... ORPHA:75840
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Werner Syndrome
Skeletal muscle atrophy, Sparse scalp hair, Short stature, Miscarriage, Prematurely aged appearan... ORPHA:902
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... OMIM:212360
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Lack of skin elasticity ORPHA:1366
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Neu-Laxova Syndrome
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Intrauterine growth retardation, Pter... ORPHA:2671
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Enlarged joints, ... OMIM:313420
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... ORPHA:399086
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Short stature, Premat... ORPHA:90153
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... OMIM:265900
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... OMIM:609285
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Trichothiodystrophy 2, Photosensitive
Short stature, Agenesis of maxillary lateral incisor, Coarse hair, Congenital nonbullous ichthyos... OMIM:616390
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ... ORPHA:166016
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... ORPHA:370968
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Thickened skin, Rectal prolapse, Hypoplastic f... OMIM:619793
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Ulerythema Ophryogenesis
Miscarriage, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Sparse ... ORPHA:3406
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal ch... ORPHA:163966
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, High, narrow palate, Abnormal thorax morphology, Flexion c... ORPHA:171433
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Mitral Valve Prolapse 1
Reversed usual vertebral column curves, Pectus excavatum, High, narrow palate, High palate, Stria... OMIM:157700
Sjögren-Larsson Syndrome
Short stature, Abnormal dental enamel morphology, Kyphosis, Erythema, Urticaria, Hyperkeratosis, ... ORPHA:816
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Telangiectasia of the skin, Micrognathia, Kyphosis, Lack of skin elasticity, Sco... OMIM:615381
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short me... OMIM:608328
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Hyperextensible skin, High palate, Short phalanx of finger, Bifid ... OMIM:612350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... OMIM:606612
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism, Delayed puberty ORPHA:2297
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Reduced forced vital capa... OMIM:620249
Porokeratosis Of Mibelli
Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Lowry-Maclean Syndrome
Delayed eruption of teeth, Diaphragmatic eventration, Craniosynostosis, Cleft palate, Intrauterin... OMIM:600252
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Platyspondyly, Pallor ORPHA:2786
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Pectus carinatum, Downtu... ORPHA:1327
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Baralle-Macken Syndrome
Striae distensae, Tapered finger, High, narrow palate, Kyphosis, Acanthosis nigricans, Hirsutism OMIM:619255
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Tapered finger, Short finger, Death in childhood, Acrocya... OMIM:302000
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Abnor... ORPHA:628
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Asthma, Erythema, Gingivitis, Growth delay, Hyperkeratosis, Death in childhood, Scaling skin, Con... OMIM:614457
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Rubinstein-Taybi Syndrome 2
Syndactyly, Thick eyebrow, Short stature, Intestinal malrotation, Highly arched eyebrow, Microgna... OMIM:613684
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Short neck, Kyphosis... OMIM:618393
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Ichthyosis, Dry skin OMIM:603165
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Cam... OMIM:618011
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... OMIM:619110
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Severe short stature, Short stature, Lumbar hyperlor... OMIM:612921
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Finger syndactyly,... ORPHA:2751
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... OMIM:617571
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Shor... OMIM:184260
Aquagenic Palmoplantar Keratoderma
Abnormal phalangeal joint morphology of the hand, Orthokeratotic hyperkeratosis, Excessive skin w... ORPHA:498359
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ... OMIM:119600
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... ORPHA:34515
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... OMIM:618363
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... ORPHA:59135
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Antisynthetase Syndrome
Joint dislocation, Myositis, Telangiectasia of the skin, Xerostomia, Lack of skin elasticity, Res... ORPHA:81
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Filippi Syndrome
Postnatal growth retardation, 2-4 toe syndactyly, Hypertrichosis, Cutaneous syndactyly, Finger cl... OMIM:272440
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tented upper lip vermilion,... ORPHA:98905
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Flexion contracture of finger, Redundant neck skin, Exaggerated cupid's bow, Diastasis ... ORPHA:254528
Acrootoocular Syndrome
Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anodontia, Small hypothenar em... ORPHA:2980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Oral mucosal blisters, Abnormality of the dentition, Hyperkeratosis, Skin... ORPHA:79399
Lethal Acantholytic Erosive Disorder
Natal tooth, Absent eyebrow, Acantholysis, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy... ORPHA:158687
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... OMIM:620310
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... OMIM:620389
Geleophysic Dysplasia 1
Short palm, Short stature, Camptodactyly of finger, Coxa valga, Pectus excavatum, Thickened skin,... OMIM:231050
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Respiratory distress, Bowing of the long bones, Shor... ORPHA:166272
Intellectual Disability, Birk-Barel Type
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy, Highl... ORPHA:166108
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Arachnodacty... ORPHA:2759
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Micrognathia, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle ... OMIM:600462
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Abnormal thorax morphology, Lack of skin elasticity, Excessive wrinkl... ORPHA:758
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Arachnodactyly, Carious teeth, Kyphosis, Hy... ORPHA:1883
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Highly ar... OMIM:619451
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Short neck, Hyperlordosis, Missing ribs, Abnormal sacrum morphology, Short ... ORPHA:1797
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Flexion contracture of finger, Decreased number of sweat glands, Abnorm... ORPHA:69087
Acquired Ichthyosis
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin ORPHA:454
Trichorhinophalangeal Syndrome Type 1
Micrognathia, Short metatarsal, Pectus carinatum, High palate, Clinodactyly of the 5th finger, Sp... ORPHA:77258
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Abnorma... ORPHA:2790
Erythrokeratodermia Variabilis
Alopecia, Short stature, Tapered finger, Abnormal hair morphology, Erythema, Patchy palmoplantar ... ORPHA:317
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Stiff Skin Syndrome
Thickened skin, Short stature, Lack of skin elasticity ORPHA:2833
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Central Core Disease
Multiple joint contractures, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance, Pel... ORPHA:597
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short stature, Sparse eyelashes, Micrognathia, Short neck, High, narrow palate... ORPHA:1787
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Absent eyebrow, Short stature, Abnormal dental enamel morphology, Trichi... OMIM:601701
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidiaphragm morphology, Micrognathia, ... ORPHA:2257
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Hyperextensible skin, Sh... ORPHA:915
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Micrognathia, Absent middle pha... OMIM:308050
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... OMIM:615348
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs... OMIM:305620
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Palmoplantar hyperkeratosis,... ORPHA:79395
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Short... OMIM:606071
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Spinal rigidi... OMIM:254090
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis ORPHA:79503
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Skeletal muscle atrophy, Death in infancy, Respiratory distress, Thoracic ... OMIM:620278
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contrac... OMIM:114300
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Odontoonychodermal Dysplasia
Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth, Smooth tongu... OMIM:257980
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... OMIM:609052
W Syndrome
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Clinodactyly, Subm... ORPHA:2804
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Hi... ORPHA:263463
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... OMIM:619057
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Zimmermann-Laband Syndrome
Facial hypertrichosis, Hallux valgus, Micrognathia, Short neck, Supernumerary tooth, Gingival fib... ORPHA:3473
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Syndactyly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular ... OMIM:613576
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani... ORPHA:364577
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent joint dislocation, Congenital hip dislocation, Hyperextensible skin, Recurrent sinusiti... OMIM:130010
Ramon Syndrome
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Gingiva... ORPHA:3019
Loeys-Dietz Syndrome 4
Torticollis, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Hig... OMIM:614816
Metatropic Dysplasia
Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Distal lower limb amyotrophy, Short stature, Sandal gap, Kyphosis, Thick l... OMIM:300354
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Short stature, Red... ORPHA:502
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Trichorhinophalangeal Syndrome, Type I
Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone-shaped epip... OMIM:190350
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Hypodontia, Nail dystrophy, Spars... OMIM:224750
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Cutis marmorata, Congenital hip dislocation, Achi... OMIM:619719
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Dysosteosclerosis
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie... OMIM:224300
Classic Phenylketonuria
Growth delay, Hypopigmentation of hair, Lack of skin elasticity ORPHA:79254
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo... ORPHA:740
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow palate, Re... OMIM:618186
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy OMIM:613869
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Prominent metopic ridge, Rocker bottom foot, Highly arched eyebrow, S... OMIM:618804
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin OMIM:146590
Atelosteogenesis, Type Ii
Cervical kyphosis, Micrognathia, Short neck, Increased intervertebral space, Death in infancy, Lu... OMIM:256050
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Pallor ORPHA:90064
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Short stature, Thick hair, Micrognathia, Pectus excavatum, Growth delay, D... OMIM:617675
Acute Myelomonocytic Leukemia
Dyspnea, Abnormality of the gingiva, Pallor ORPHA:517
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Micrognathia, Short neck, High, narrow palate, Dyspne... ORPHA:3015
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Allergic rhini... ORPHA:90368
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Increased overbite, Long philtrum, To... OMIM:618761
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Redundant skin, Lumbar hyp... OMIM:616482
Atypical Werner Syndrome
Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Premature graying of hair, Finger cli... ORPHA:79474
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... ORPHA:206559
Leopard Syndrome 3
Curly hair, Short stature, Epidermal hyperkeratosis, Short neck, Low posterior hairline, Growth d... OMIM:613707
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... OMIM:234100
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A... OMIM:619797
Tetrasomy 5P
Respiratory distress, Redundant neck skin, Cyanosis, Overlapping toe, Short hallux, Micrognathia,... ORPHA:3309
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hi... OMIM:618291
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Coffin-Siris Syndrome 3
Sparse scalp hair, Thick eyebrow, Short stature, Central diaphragmatic hernia, Short distal phala... OMIM:614608
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... OMIM:117650
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Abnormal rib morphology,... ORPHA:2345
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Trichorhinophalangeal Syndrome, Type Iii
Short palm, Thin upper lip vermilion, Short metacarpal, Brachydactyly, Short stature, Dental crow... OMIM:190351
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post... OMIM:258850
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick lower lip verm... OMIM:300602
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Severe short stature, Toe syndactyly, Highly arched eyebrow, Short t... ORPHA:2319
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... ORPHA:312
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, High palate, Muscle fi... ORPHA:98914
Congenital Myasthenic Syndrome
Congenital hip dislocation, Limb-girdle muscle weakness, Pectus carinatum, High palate, Muscle fi... ORPHA:590
Incontinentia Pigmenti
Conical tooth, Hemivertebrae, Oligodontia, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alo... OMIM:308300
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ... ORPHA:2484
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Hyperextensible skin, Follicular hyperkeratosi... ORPHA:300179
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... ORPHA:2025
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... ORPHA:90117
Congenital Myopathy 24
Scapular winging, Facial palsy, Talipes equinovarus, Type 1 muscle fiber predominance, Nemaline b... OMIM:617336
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Erythema, Leukonychia, Hyperkeratosis, Tooth agenesis, Palmoplantar keratoderma, N... OMIM:615821
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten... OMIM:619751
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, High palate, Intrauterine growth retardation, Ret... OMIM:615330
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien... OMIM:245400
Flynn-Aird Syndrome
Alopecia, Kyphoscoliosis, Carious teeth, Hyperkeratosis, Alopecia of scalp OMIM:136300
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Autosomal Recessive Cutis Laxa Type 1
Severe short stature, Redundant skin, Pyloric stenosis, Wide anterior fontanel, Pneumothorax, Rec... ORPHA:90349
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Micrognathia, ... OMIM:613849
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Micrognathia, Short neck, Low anterior hairline, Coxa vara, Pectu... ORPHA:800
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Hyperextensible skin, Soft skin, Striae distensae OMIM:130020
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Redundant skin OMIM:301021
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Wormian bones, Short stature, Dental crowding, Broad long bon... OMIM:269300
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Conical tooth, Absent eyelashes, Hyperkeratosis, Nail dystrophy, S... OMIM:618625
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Hyperextensible skin, Sparse hair, Joint contracture, Short stature, Respiratory insufficiency, S... OMIM:615349
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis, Oral mucosal blisters ORPHA:89838
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... ORPHA:2311
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Alopecia, Severe short stature, Brachydactyly, Abnormal dental enamel morpholo... ORPHA:1005
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Short stature, Esophageal stricture, Asthma, Hyperkeratosis, Palmoplan... OMIM:616029
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Pycnodysostosis
Obtuse angle of mandible, Abnormal clavicle morphology, Persistent open anterior fontanelle, Micr... ORPHA:763
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Congenital hip dislocation, Growth delay, Macroglossia, Wormian bones,... OMIM:614450
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebra... ORPHA:192
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Brachydactyly, Short stature, Sandal... OMIM:614607
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Micrognathia, Hypoplasia ... ORPHA:96334
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... OMIM:620011
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Alopecia, Severe short stature, Macrodontia, Abno... ORPHA:3242
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... OMIM:607602
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle ho... OMIM:617895
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, Cutaneous fi... OMIM:211380
Adducted Thumbs Syndrome
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory in... OMIM:201550
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short stature, Short 1st metacarpal, Hip dysplasia, Short middle phala... ORPHA:63442
Ear-Patella-Short Stature Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ... ORPHA:2554
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Leukonychia, Hy... OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Hypergranulosis, Abnormal hair morphology, Short toe, Erythema, Growth delay, Hyperkera... OMIM:242100
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Anauxetic Dysplasia 3
Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Thoracolumbar kyphosco... OMIM:618853
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Micrognathia, Short neck, Craniosynostosis, Kn... ORPHA:284417
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Pycnodysostosis
Persistent open anterior fontanelle, Wormian bones, Short stature, Brachydactyly, Delayed eruptio... OMIM:265800
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... ORPHA:168549
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Spasticity of facial muscles, Pallor OMIM:606353
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis ORPHA:209981
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Short stature, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, ... OMIM:615502
Mosaic Trisomy 14
Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Cleft palate, Wide mo... ORPHA:1703
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Facial hypotonia, Short metacarpal, Micr... OMIM:216550
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... OMIM:603034
Congenital Myopathy 21 With Early Respiratory Failure
Spinal rigidity, Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth ret... OMIM:620326
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Short stature, Abnormality of the philtrum, Camptodactyly of finger, M... ORPHA:2863
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali... OMIM:617519
Progeroid Syndrome, Petty Type
Mandibular prognathia, Reduced subcutaneous adipose tissue, Brittle hair, Short stature, Redundan... ORPHA:2963
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu... OMIM:135100
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, A... ORPHA:1988
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... OMIM:601462
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Diaphragmatic eventration, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... OMIM:604320
Intellectual Developmental Disorder, Autosomal Dominant 62
Arachnodactyly, Scoliosis, Striae distensae OMIM:618793
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Short stature, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard pal... OMIM:617412
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Genu recurvatum, C... ORPHA:137834
Hereditary Sensory And Autonomic Neuropathy Type 1
Neuropathic arthropathy, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis,... ORPHA:36386
Bathing Suit Ichthyosis
Eclabion, Alopecia, Parakeratosis, Multiple joint contractures, Thickened skin, Palmoplantar hype... ORPHA:100976
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... OMIM:616788
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Abnormality of the knee, Parakeratosis, Oral mucosal blisters, Palmoplantar hyperkeratosis, Skin ... ORPHA:158681
Emanuel Syndrome
Redundant neck skin, Dental crowding, Multiple joint contractures, Congenital diaphragmatic herni... ORPHA:96170
Chime Syndrome
Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morphology, Aplastic clavic... ORPHA:3474
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... ORPHA:2199
Noonan Syndrome 8
Curly hair, Short stature, Short neck, Hyperkeratosis, Abnormal sternum morphology, Hyperextensib... OMIM:615355
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch... OMIM:605282
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Apnea, Abnormal dental enamel morphology, Open bite, Cariou... ORPHA:10
Congenital Heart Block
Cyanosis, Crackles, Pallor, Intrauterine growth retardation, Pleural effusion ORPHA:60041
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling sk... ORPHA:166113
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, High palate... OMIM:619312
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis mo... ORPHA:2643
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Patchy alopec... OMIM:141300
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal... ORPHA:2050
Optic Atrophy 1
Pallor OMIM:165500
Desbuquois Dysplasia 2
Dental crowding, Short neck, Synophrys, Metaphyseal widening, Pectus carinatum, Knee dislocation,... OMIM:615777
Prolidase Deficiency
Arachnodactyly, Micrognathia, Carious teeth, Erythema, Low anterior hairline, Skin ulcer, Genu va... ORPHA:742
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Short stature, Submucous cleft hard palate, Periarticular soft-tissue mass, ... OMIM:601492
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Camptodactyly of finger, Flexion contracture, Growth delay, Wide mouth, Respira... ORPHA:1194
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hemivertebrae, Abnormal rib... ORPHA:2180
Chilblain Lupus
Cutis marmorata, Asthma, Skin ulcer, Hyperkeratosis, Finger swelling ORPHA:90280
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea,... ORPHA:2707
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine ... ORPHA:1506
Bloom Syndrome
Syndactyly, Postnatal growth retardation, Bronchiectasis, Agenesis of maxillary lateral incisor, ... OMIM:210900
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... ORPHA:2026
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia ORPHA:171719
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Supernumerary nipple, Micrognathia, Pectus excavatum, Widow's peak, Submucous c... OMIM:619122
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Thoracic hypoplasia, Micrognathia, Hype... OMIM:608013
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Alopecia, Oral mucosal blisters, Abnormality of the dentition, Cutaneous ... ORPHA:79397
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia OMIM:614100
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo... OMIM:617405
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p... OMIM:616331
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Cleft palate, Hyperkeratosis, Ichthyosis ORPHA:494
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Severe short stature, Facial palsy, Micrognathia, Hyperlordosis, High,... ORPHA:2780
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Pyloric stenosis, Hig... ORPHA:2409
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Short stature, Palmoplantar keratoderma, ... ORPHA:1816
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Trichothiodystrophy 1, Photosensitive
Brittle hair, Flexion contracture, Sparse hair, Tiger tail banding, Death in infancy, Trichoschis... OMIM:601675
Classic Mycosis Fungoides
Alopecia, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... OMIM:611588
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... OMIM:600002
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... OMIM:184250
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Thic... ORPHA:2588
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers OMIM:618416
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short stature, Slow-growing hair, Mi... ORPHA:3082
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Mass Syndrome
Arachnodactyly, Scoliosis, Striae distensae, Pectus carinatum OMIM:604308
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... ORPHA:2590
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Cutis laxa, Absent pubic hair, Alopecia of scalp, Sc... ORPHA:2269
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... ORPHA:474
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... ORPHA:2222
Sialidosis Type 1
Skeletal muscle atrophy, Short stature, Kyphosis, Thick lower lip vermilion, Short thorax, Abnorm... ORPHA:812
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Short stature, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of ... ORPHA:3201
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Synophrys, Low anterior hairline, S... OMIM:619841
Ehlers-Danlos Syndrome, Classic-Like
Poor wound healing, Hiatus hernia, Proximal amyotrophy, Hyperextensible skin, Joint subluxation, ... OMIM:606408
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Atrophoderma Vermiculata
Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... ORPHA:1507
Macs Syndrome
Irregular dentition, Redundant skin, Micrognathia, Hyperextensible skin, High palate, Sparse hair... OMIM:613075
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Syndactyly... OMIM:614701
Proteus Syndrome
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Hyperkeratosis, Facial hyperostos... OMIM:176920
Hidrotic Ectodermal Dysplasia
Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic papule, Absent eyebro... ORPHA:189
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... OMIM:618729
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Dental crowding, Micrognathia, Flexion contracture, Knee flexion cont... ORPHA:2020
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Short neck, Hyperextensible skin, High palate, Sparse hair, Dystrop... ORPHA:1340
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... OMIM:225500
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Low... ORPHA:235
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased endomysial conne... ORPHA:178148
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivert... ORPHA:958
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Grant Syndrome
Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Open bite, Abnormal rib... ORPHA:2097
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Short stature, Hypoplasia of the maxilla, Carious teeth,... ORPHA:50814
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Advanced e... ORPHA:2215
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3... ORPHA:2712
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... OMIM:608940
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd... OMIM:129400
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Abnormal thorax morphology, Flexion contracture, Thin ribs... ORPHA:171430
Snakebite Envenomation
Epistaxis, Angioedema, Rhabdomyolysis, Erythema, Respiratory failure, Muscle fiber necrosis, Ging... ORPHA:449285
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... ORPHA:352447
Diamond-Blackfan Anemia 1
Micrognathia, Short neck, Hypoplastic coccygeal vertebrae, High palate, Pallor, Narrow chest, Tri... OMIM:105650
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... OMIM:616867
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Congenital hip dislocation, Redundant skin, Abnormality of hair texture, Carious te... OMIM:219200
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Tarp Syndrome
Apnea, Micrognathia, Glossoptosis, Finger syndactyly, Scoliosis, Widely patent fontanelles and su... ORPHA:2886
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Type 2 muscle fiber atrophy, Weakness of facial musculature, Limb muscle weakness, ... OMIM:608930
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... OMIM:601812
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Craniosynostosis, Persistence of primary teeth, Erythema, Recurrent pneumonia, High palate, Scoli... OMIM:147060
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair... OMIM:300232
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate,... OMIM:615582
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Wide anterior fontanel, Cleft pa... OMIM:619736
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Split hand, Abnormal rib morpho... ORPHA:2145
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... OMIM:175700
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae ORPHA:64745
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Cyanosis ORPHA:91130
De Barsy Syndrome
Decreased muscle mass, Congenital hip dislocation, Prominent veins on trunk, Coxa vara, High pala... ORPHA:2962
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Wide anterior fontanel,... ORPHA:2021
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Short stature, Abnormal dental enamel morphology... ORPHA:582
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... OMIM:619334
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Meester-Loeys Syndrome
Joint dislocation, Brachydactyly, Short stature, Arachnodactyly, Poor wound healing, Gingival ove... OMIM:300989
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Cranioectodermal Dysplasia 4
Short stature, Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumonia, Decreased nasal ... OMIM:614378
Cardiofaciocutaneous Syndrome 3
Curly hair, Short stature, Short neck, Pectus excavatum, Wide mouth, Hyperkeratosis, Scoliosis OMIM:615279
Lichen Planopilaris
Alopecia, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Pterygium, Neoplasm of the o... ORPHA:525
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Micrognathia, Pectus excavatum, Kyphosis, Osteoarthritis, Submucous ... OMIM:108300
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... ORPHA:1133
Recon Progeroid Syndrome
Skeletal muscle atrophy, Prominence of the premaxilla, Dental crowding, Short stature, Progeroid ... OMIM:620370
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Short stature, Diaphyseal thickening ORPHA:1513
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... OMIM:620311
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C... OMIM:620107
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Short stature, Acanthosis nigricans, High palate, Advanced eruption of tee... OMIM:262190
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Postaxial polydactyly, Esophageal varix, Retrognathia, Growth delay, Hyperkerat... OMIM:614576
Thanatophoric Dysplasia
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Respiratory insuffi... ORPHA:2655
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Clino... OMIM:617602
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Short stature, Malar prominence, Short ... ORPHA:2522
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Disp... OMIM:259440
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Noonan Syndrome 2
Curly hair, Short stature, Micrognathia, Sparse eyebrow, Short neck, Pectus excavatum, Cubitus va... OMIM:605275
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short stature, Cone-shaped epiphysis, Platyspondyly, Short philtrum, D... ORPHA:71267
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Temple-Baraitser Syndrome
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, Low anterior hairline,... ORPHA:420561
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Brachydactyly, Dental crowding, Kyphoscoliosis, Macroglossia, Camptoda... OMIM:616354
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Short stature, Facial hypotonia, Genu recurvatum, Kyphosis, Narrow palate,... ORPHA:364028
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Pachyonychia Congenita
Respiratory distress, Natal tooth, Alopecia, Angular cheilitis, Linear arrays of macular hyperker... ORPHA:2309
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Rin2 Syndrome
Irregular dentition, Sparse scalp hair, Redundant skin, Gingival overgrowth, Abnormal lip morphol... ORPHA:217335
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Geroderma Osteodysplastica
Mandibular prognathia, Beaking of vertebral bodies, Severe short stature, Prematurely aged appear... ORPHA:2078
Chand Syndrome
Curly hair, Short fifth metatarsal, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Abno... ORPHA:1401
Fibromuscular Dysplasia, Multifocal
Dental crowding, Soft skin, Hiatus hernia, Micrognathia, Pectus excavatum, Hyperextensible skin, ... OMIM:619329
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Sparse scalp hair, Short stature, Sparse eyelashes, Progeroid ... ORPHA:75496
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Short stature, Jaundice, Growth delay, Pallor OMIM:615631
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ... OMIM:312150
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ... ORPHA:238468
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short stature, Dental crowding, Highly arched eyebrow, Micrognathia, Persistence of primary teeth... OMIM:618342
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finge... OMIM:235510
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Poland Syndrome
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... OMIM:173800
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal dental en... ORPHA:2325
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Restrictive Dermopathy 1
Prominent superficial blood vessels, Micrognathia, Flexion contracture, Overtubulated long bones,... OMIM:275210
Cutis Laxa, Autosomal Recessive, Type Iiia
Prominent superficial blood vessels, Congenital hip dislocation, Short stature, Wide cranial sutu... OMIM:219150
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Carious teeth, Coxa ... OMIM:214150
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ... OMIM:257850
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Wide anterior fontanel, Flexion contracture, Hyperkeratosis, Thin vermilion bor... OMIM:609180
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy OMIM:254210
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... ORPHA:239
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tented upper lip vermilion, Tapered finger, Flexion contracture, Narrow palate, Distal amyotrophy... OMIM:616505
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Short stature ORPHA:2574
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... ORPHA:324604
Trichothiodystrophy 3, Photosensitive
Natal tooth, Brittle hair, Short stature, Carious teeth, Pyloric stenosis, Congenital ichthyosifo... OMIM:616395
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Short neck, Abnormal soft pal... ORPHA:884
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Craniosynostosis, Abnormality of the dentition, Abnormal hair morpholo... ORPHA:2314
Noonan Syndrome 10
Curly hair, Short stature, Short neck, Sparse eyebrow, Pectus excavatum, Pectus carinatum, Hyperk... OMIM:616564
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co... OMIM:217150
Incontinentia Pigmenti
Orofacial cleft, Spina bifida occulta, Finger syndactyly, Alopecia, Short stature, Abnormal denta... ORPHA:464
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Redundant skin, Micrognathia, Hyperextensible skin, Short phalanx of finger, Short stature, Wide ... OMIM:225410
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Abnormal thorax morphology, Hypoxemia, Respiratory... ORPHA:70587
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Abnormal clavicle morphology, Short s... ORPHA:2067
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... OMIM:620099
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Conical incisor, Narrow chest, Microdontia, Emphysema, Neonatal ... ORPHA:289
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair, Sho... ORPHA:1264
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Acrocraniofacial Dysostosis
Short stature, Craniosynostosis, Micrognathia, Pectus excavatum, Tapered finger, Coxa valga, Clef... ORPHA:949
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Craniolenticulosutural Dysplasia
Brittle hair, Coarse hair, High palate, Narrow chest, Sparse hair, Bifid uvula, Short stature, Wi... OMIM:607812
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... OMIM:200610
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... OMIM:602400
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Respiratory insufficiency, Arthritis, Cough, Purpura ORPHA:375
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Sma... ORPHA:952
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior... OMIM:114290
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Redundant neck skin, Congenital hip dislocation, Redundant skin, Prominent... ORPHA:357074
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Respiratory failure OMIM:613435
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of th... OMIM:276950
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, Finger syndactyly, S... ORPHA:2907
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... OMIM:265000
Spontaneous Periodic Hypothermia
Pallor, Abnormal pattern of respiration ORPHA:29822
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Clinodactyly of the 5th finge... OMIM:620183
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Glossoptosis, Rib exostoses, Clinodactyly of the 5th finger, S... ORPHA:2108
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... ORPHA:169186
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Poor wound healing, Kyphosis, Hirsutism, Facial erythema, Biconcave vert... OMIM:219090
Robinow Syndrome, Autosomal Recessive 2
Short stature, Cleft soft palate, Broad hallux, Micrognathia, Abnormality of the dentition, Sanda... OMIM:618529
Hypophosphatasia
Bowing of the long bones, Short stature, Craniosynostosis, Abnormality of the dentition, Abnormal... ORPHA:436
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord... ORPHA:3353
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... OMIM:263750
Laron Syndrome
Delayed eruption of teeth, Severe short stature, Prematurely aged appearance, Micrognathia, Osteo... ORPHA:633
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal p... ORPHA:1488
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Patellar hypoplasia, Facial erythema, High palate, Sparse hair, Microdontia, S... ORPHA:221016
Native American Myopathy
Skeletal muscle atrophy, Muscle fiber atrophy, Short stature, Micrognathia, Abnormality of skelet... ORPHA:168572
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Coxa vara, Hyperextensible skin, Clinodactyly of the 5th fi... ORPHA:3342
Hall-Riggs Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Thick hair, Slow-gro... ORPHA:2107
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Livedo, Telangiectasia, Conical incisor, Nail dystrophy, F... OMIM:614564
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Prominent superficial veins, Short stature, Femur fracture, ... OMIM:619322
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, ... OMIM:143095
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Carious teeth, ... ORPHA:93324
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... ORPHA:96264
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Congenital hip dislo... ORPHA:496641
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal ca... ORPHA:93351
Geroderma Osteodysplasticum
Mandibular prognathia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Seve... OMIM:231070
Bohring-Opitz Syndrome
Joint dislocation, Micrognathia, Flexion contracture, Low anterior hairline, Dislocated radial he... OMIM:605039
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Severe short stature, Rhizomelia, Craniosynostosis, Micrognathia, A... ORPHA:2645
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... ORPHA:99013
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Down-sloping... ORPHA:96263
Ehlers-Danlos Syndrome, Classic-Like, 2
Thoracic scoliosis, Redundant skin, Micrognathia, Short neck, Osteoarthritis, Knee dislocation, S... OMIM:618000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi... OMIM:271640
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... OMIM:269860
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Bruising susceptibility, Striae distensae OMIM:225310
Hemoglobin D Disease
Pallor ORPHA:90039
Atkin-Flaitz Syndrome
Short stature, Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion,... ORPHA:1193
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum... OMIM:303600
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... OMIM:223800
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle ... ORPHA:3068
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P... OMIM:619208
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... OMIM:619518
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Congenital laryngeal stridor, Respiratory failure, Tongue fasciculations... ORPHA:2254
Rothmund-Thomson Syndrome
Selective tooth agenesis, Sparse hair, Microdontia, Calcinosis, Hypoplasia of the ulna, Short sta... ORPHA:2909
Short Stature, Dauber-Argente Type
Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular diameter, P... OMIM:619489
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Pectus excavat... OMIM:614753
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle ... OMIM:224690
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Generalized amyotrophy, Proximal amyotrophy OMIM:615084
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... ORPHA:254886
Lipoid Proteinosis
Abnormal oral mucosa morphology, Thickened skin, Abnormality of the gingiva, Thick lower lip verm... ORPHA:530
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia OMIM:247100
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insufficiency due to m... OMIM:310200
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micrognathia, Short neck, Abnormal finger morphology, Ab... ORPHA:2636
Esophageal Atresia
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Pyloric stenosis, Clef... ORPHA:1199
Autosomal Dominant Robinow Syndrome
Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Abnorma... ORPHA:3107
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... OMIM:183900
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... OMIM:617258
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... OMIM:617337
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Short stature, Short neck, Micrognathia, Abnormality of the elbow, Abnor... ORPHA:1486
Immunodeficiency 54
Short stature, Postnatal growth retardation, Respiratory insufficiency, Respiratory failure, Intr... OMIM:609981
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Cari... OMIM:277440
Wrinkly Skin Syndrome
Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet, Coxa vara, ... OMIM:278250
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga... OMIM:248800
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi... OMIM:618825
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Sparse eyelashes, Abnormal dental enamel morphology... ORPHA:1071
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone... ORPHA:3145
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality ... OMIM:601076
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Apnea, Premature loss of primary teeth, Abno... ORPHA:667
Xylt1-Cdg
Joint dislocation, Short stature, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Growth ... ORPHA:370930
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... OMIM:268310
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Cleft soft palate, Kyphoscoliosis, Atlantoaxial instability, Cutis laxa,... OMIM:614557
Rheumatic Fever
Sinusitis, Epistaxis, Aplasia/Hypoplasia of the abdominal wall musculature, Erythema, Respiratory... ORPHA:3099
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Cutis laxa ORPHA:79148
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema, Oral ulcer, Gingivitis ORPHA:83453
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, Brachydactyly, Short stature, Notched primary central incisor, High anterior h... OMIM:620062
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary art... ORPHA:2414
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Short ne... OMIM:261540
Momo Syndrome
Delayed eruption of teeth, Cutis marmorata, Short neck, Thick lower lip vermilion, Dental maloccl... OMIM:157980
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Myopathy, Respiratory failure, Acanthosis nigricans, General... ORPHA:363400
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Jaundice, Oligodontia, Hyp... OMIM:607626
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... OMIM:252011
Rafiq Syndrome
Thin upper lip vermilion, Broad eyebrow, Short stature, Highly arched eyebrow, Long eyebrows, Spa... OMIM:614202
Coffin-Siris Syndrome 11
Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Small hand, Low posterior hairlin... OMIM:618779
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Short neck, High, narrow palate, Synophrys, Proxim... OMIM:122470
Cat-Eye Syndrome
Short stature, Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Anal atresia ORPHA:195
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Myositis, Absent muscle fiber merosi... ORPHA:258
Kindler Epidermolysis Bullosa
Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Sho... ORPHA:2908
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... OMIM:614008
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Leishmaniasis
Abnormal oral mucosa morphology, Skin ulcer, Rhinitis, Pallor, Abnormal oral cavity morphology ORPHA:507
Momo Syndrome
Delayed eruption of teeth, Short stature, Cutis marmorata, Short neck, Thick lower lip vermilion,... ORPHA:2563
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisor... ORPHA:2063
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Micrognathia, Short neck, Duplication of thumb phalan... ORPHA:2756
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Prematur... OMIM:268400
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... OMIM:500013
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... OMIM:242300
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Short stature, Micrognathia, Carious teeth, Sparse eyebrow, Recurrent pne... OMIM:604173
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap... OMIM:614592
Vascular Malformation, Primary Intraosseous
Diastasis recti, Ectopic tooth eruption, Gingival bleeding, Supraumbilical raphe OMIM:606893
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Fanconi Anemia, Complementation Group I
Short stature, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical ve... OMIM:609053
Harlequin Ichthyosis
Respiratory insufficiency, Hyperkeratosis, Congenital ichthyosiform erythroderma, Hand polydactyl... ORPHA:457
Scarf Syndrome
Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Cutis laxa,... ORPHA:3134
Gapo Syndrome
Prominent scalp veins, Alopecia, Sparse eyelashes, Redundant skin, Facial palsy, Micrognathia, Sp... OMIM:230740
Achondrogenesis Type 1B
Severe short stature, Short neck, Micrognathia, Disproportionate short stature, Short thorax, Abn... ORPHA:93298
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... OMIM:613382
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough ORPHA:99931
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Micrognathia, Short neck, Proximal placement of thumb, Abnormal ... ORPHA:818
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Micrognathia, Short neck, Multiple joint dislocation, Pectus car... OMIM:245600
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Micrognathia, Short neck, Beaded ribs, Dec... OMIM:616897
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Short neck, Narrow chest, Neonatal short-limb short stature, Radial bowing,... OMIM:151210
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... OMIM:264700
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmoplantar kerat... OMIM:308800
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pectus carinatu... OMIM:115150
Cranioectodermal Dysplasia 3
Rhizomelia, Short stature, Short nail, Micrognathia, Sagittal craniosynostosis, 2-4 toe syndactyl... OMIM:614099
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Asthma, Supernumerary tooth, Recurrent pneumonia, Bronchiectasis, H... OMIM:619752
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morphology, Flexion ... ORPHA:666
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Cleft palate, Low posterior... OMIM:118100
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... ORPHA:276422
Cardiospondylocarpofacial Syndrome
Brachydactyly, Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, ... ORPHA:3238
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Dental crowding, Arachnodactyly, Poor wound healin... OMIM:225400
Ulbright-Hodes Syndrome
Respiratory distress, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phoco... ORPHA:3404
Craniosynostosis 2
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... OMIM:604757
Osteogenesis Imperfecta, Type X
Respiratory distress, Thoracic scoliosis, Micrognathia, Tibial bowing, Narrow chest, Death in chi... OMIM:613848
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxia... OMIM:610829
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology ORPHA:254478
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibia... OMIM:601559
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala... OMIM:300373
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contractures, Micro... ORPHA:536471
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Bowing of the long bones, Small abnormally formed scapulae, Short ... OMIM:187600
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Dravet Syndrome
Limited knee extension, Cyanotic episode, Pallor, Tibial torsion ORPHA:33069
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor... OMIM:615633
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... ORPHA:54028
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Erythema, Cheilitis, Skin ulcer, Hyperkeratosis, Abnormal lip ... ORPHA:1334
Wrinkly Skin Syndrome
Decreased muscle mass, Congenital hip dislocation, Excessive skin wrinkling on dorsum of hands an... ORPHA:2834
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Carious ... OMIM:244460
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple j... ORPHA:536467
Rabson-Mendenhall Syndrome
Mandibular prognathia, Reduced subcutaneous adipose tissue, Short stature, Dental crowding, Thick... ORPHA:769
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis OMIM:612379
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Redundant skin, High, narrow palate, Abnormal finger morphology, Symphalan... ORPHA:2658
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Everted lower lip v... OMIM:618067
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Intestinal malrotation, M... ORPHA:3035
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abn... ORPHA:2167
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Duplication Of The Pituitary Gland
Thoracic scoliosis, Short stature, Abnormal odontoid process morphology, Short neck, Supernumerar... ORPHA:314621
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... ORPHA:573
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Cenani-Lenz Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot oligodactyly, Sy... ORPHA:3258
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Clinodac... OMIM:609638
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Psoriasis 14, Pustular
Parakeratosis, Erythema, Oligoarthritis, Furrowed tongue, Polyarticular arthritis, Nail dystrophy... OMIM:614204
Restrictive Dermopathy
Multiple joint contractures, Micrognathia, Scaling skin, Sparse hair, Sparse eyebrow, Temporomand... ORPHA:1662
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor ORPHA:49827
Barber-Say Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair... OMIM:209885
Loeys-Dietz Syndrome
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectu... ORPHA:60030
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Coarse... ORPHA:1896
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... OMIM:150400
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Hypoplastic swea... OMIM:601345
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Low anterior hairline, Dow... OMIM:619950
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Redundant skin, Hypoplastic ilia, Abnormal sacroiliac join... ORPHA:1860
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Short neck, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follic... OMIM:615225
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affectin... ORPHA:2990
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Diastema, Open bite, Broad clavicles, D... OMIM:619698
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Facial palsy, Abnormal thorax morphology, Flared me... OMIM:218400
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Abnormality of ha... OMIM:601957
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Psoriasis 2
Hyperkeratosis, Parakeratosis, Scaling skin OMIM:602723
Ehlers-Danlos Syndrome, Periodontal Type, 1
Joint dislocation, Alveolar bone loss around teeth, Prominent superficial veins, Arachnodactyly, ... OMIM:130080
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hyperkeratosis, Fused cervical vertebrae, Joint swelling, Flaring of rib ca... OMIM:612852
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Occipital Horn Syndrome
Persistent open anterior fontanelle, Redundant skin, Pectus carinatum, Coarse hair, Hyperextensib... OMIM:304150
Dominant Beta-Thalassemia
Bowing of the long bones, Hypoplasia of the musculature, Malar prominence, Abnormality of the den... ORPHA:231226
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... OMIM:620369
Trisomy 13
Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,... ORPHA:3378
Singleton-Merten Syndrome 2
Psoriasiform lesion, Short stature, Osteolytic defects of the phalanges of the hand, Hyperkeratos... OMIM:616298
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi... OMIM:618506
Man1B1-Cdg
Thin upper lip vermilion, Long eyebrows, Short neck, Sparse eyebrow, Abnormal position of hair wh... ORPHA:397941
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Cleft soft palate, Rocker bottom foot, Micrognathia, Pectus excav... OMIM:606851
Brachydactyly, Type E1
Short metacarpal, Moderately short stature, Short metatarsal, Straight clavicles, Multiple impact... OMIM:113300
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Hypoplastic cervical vertebrae, Vertebra... ORPHA:79345
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Neuropathy, Hereditary Sensory, Type If
Hallux valgus, Neuropathic arthropathy, Osteolytic defects of the phalanges of the hand, Hyperker... OMIM:615632
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Disproportionate short stat... OMIM:222765
Donohue Syndrome
Skeletal muscle atrophy, Postnatal growth retardation, Thick lower lip vermilion, Gingival overgr... OMIM:246200
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Abnormal rib morphology, White forelock, Clinodactyly of the 5t... ORPHA:2475
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Neonatal asphyxia, Asthma, Dermatographic urticaria, Generalized ichthyosis, F... OMIM:608649
Branchioskeletogenital Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Synophrys, An... ORPHA:1299
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Short... ORPHA:950
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Ichthyosis, Aspirat... OMIM:610768
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum OMIM:312170
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Short stature, Abnormal odontoid process morphology, Block verte... OMIM:613686
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... OMIM:619148
Arterial Tortuosity Syndrome
Soft, doughy skin, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Micrognathia, ... OMIM:208050
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Overlapping fingers, Micrognathia, Short neck, Increased variabi... OMIM:617022
Osteoglophonic Dysplasia
Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Tapered finger, Long fingers, Thick lower lip vermilion, Growth delay, Joint contr... OMIM:614407
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Micrognathia, Abnormality of hair texture, Thickened skin, Synophrys, Hyperlord... ORPHA:73223
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... OMIM:108720
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... ORPHA:181
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Abnormality of the wrist, Abnormality of the elbow, Nail dystrophy ORPHA:89843
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Kyphosis, Wide anterior fontanel, Thin ribs, Tibial bowing, Sl... OMIM:259420
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Growth delay, Palmoplantar keratoderma, Nail dystrophy, Ski... ORPHA:79410
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Short stature, Poor wound healing, Hy... OMIM:130000
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Spina bifida oc... OMIM:619227
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility, Pallor ORPHA:3226
Raine Syndrome
Mandibular prognathia, Micrognathia, Short neck, High palate, Neonatal death, Microdontia, Long h... OMIM:259775
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthropathy, Long clavicles, Redundant skin, Pectus excavatum, Erythema, Clubbing, Palmoplantar h... OMIM:259100
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Short stature, Short neck, Short metatarsal, Enamel ... OMIM:612463
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Sparse scalp hair, Short stature, Highly arched eyebrow, Clinodactyly,... OMIM:615866
Rothmund-Thomson Syndrome Type 1
Patellar hypoplasia, Facial erythema, Sparse hair, Microdontia, Short phalanx of finger, Genu var... ORPHA:221008
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Abnormal dental morph... ORPHA:568
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... OMIM:148700
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Sacral dimple, Tented upper lip vermilion... OMIM:612292
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Micrognathia, Clinoda... OMIM:269880
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Bresek Syndrome
Alopecia, Aganglionic megacolon, Postaxial hand polydactyly, Hemivertebrae, Cleft palate, Growth ... ORPHA:85284
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Abnormal limb bone morphology, Fine hair, Hyperke... ORPHA:1573
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... ORPHA:2769
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtr... OMIM:614526
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Beta-Thalassemia
Respiratory insufficiency, Pallor, Skin ulcer ORPHA:848
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Sandal gap, Carious teeth, Widow's... OMIM:619229
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint dislocation, Hi... OMIM:618395
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Emanuel Syndrome
Broad jaw, Torticollis, Sacral dimple, Dental crowding, Intestinal malrotation, Delayed eruption ... OMIM:609029
Scarf Syndrome
Barrel-shaped chest, Diastasis recti, Short neck, Low anterior hairline, Abnormal form of the ver... OMIM:312830
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Short stature, Abnormal dental morphology, Abnormality of the dentition, Carious tee... ORPHA:158668
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Arachnodactyly, ... ORPHA:284984
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Cole-Carpenter Syndrome 2
Microretrognathia, Wide cranial sutures, Short stature, Postnatal growth retardation, Kyphosis, P... OMIM:616294
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, Micrognathia, 2-3 toe syndactyly, Clubbing of toes, Clubbing ... ORPHA:3304
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Frontal balding, Micrognathia, Short neck, High, narrow palate, Synoph... ORPHA:96092
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Elbow dislocatio... OMIM:613805
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Wide anterior fontanel OMIM:618240
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Curly hair, Micrognathia, Short tubular bones of the hand, Wide anterio... ORPHA:85184
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Apnea, Internall... OMIM:619503
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital hip dislocation, Micrognathia, Synophrys, Pectus carinatum, K... ORPHA:536545
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Marfan Syndrome
Skeletal muscle atrophy, Arthralgia/arthritis, Dental crowding, Spontaneous pneumothorax, Limited... ORPHA:558
Cerebrofaciothoracic Dysplasia
Thick eyebrow, Short stature, Abnormal hair pattern, Cleft upper lip, Short neck, Synophrys, Hemi... ORPHA:1394
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Facial erythema ORPHA:439218
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Ramon Syndrome
Delayed eruption of teeth, Short stature, Angiokeratoma, Kyphosis, Gingival fibromatosis, Narrow ... OMIM:266270
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Progeroid facial appearance, Kyphosis, ... ORPHA:90322
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure ORPHA:168486
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My... OMIM:300219
Familial Cervical Artery Dissection
Facial palsy, Striae distensae ORPHA:36382
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Hereditary Folate Malabsorption
Cheilitis, Glossitis, Pallor, Skeletal muscle atrophy ORPHA:90045
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... OMIM:614594
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Marfan Syndrome
Decreased muscle mass, Dental crowding, Genu recurvatum, Micrognathia, Equinus calcaneus, Flexion... OMIM:154700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Short stature, Micrognathia, Postnatal growth retardation, Low anterio... ORPHA:73272
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Costello Syndrome
Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Micrognathi... OMIM:218040
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Redundant skin, Micrognathia, Equinus calcaneus, Prominent... ORPHA:536532
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, I... ORPHA:2461
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T... OMIM:619574
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Short stature, Pneumonia, Limited elbow movement, Limited wrist movement, T... OMIM:617809
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Jaundice, Pallor OMIM:266200
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Beta-Thalassemia Major
Bowing of the long bones, Hypoplasia of the musculature, Malar prominence, Abnormality of the den... ORPHA:231214
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Redundant skin, Cervical kyphosis, Abnormal sternum morphology, Hyperexten... ORPHA:2953
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Abnormal thorax morphology,... OMIM:253310
Char Syndrome
Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... ORPHA:46627
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Craniofaciofrontodigital Syndrome
Respiratory distress, Low anterior hairline, Pectus carinatum, Finger joint hypermobility, Short ... ORPHA:363705
Hereditary Mucoepithelial Dysplasia
Alopecia, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Fine hair, Hyperkerato... ORPHA:1839
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Abnormality of the dentition, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1806
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Cheilitis, Hyperkeratosis, Vasculitis in the skin, Cutaneous photosensitivity ORPHA:163525
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Micrognathia, Short neck, Pierre-Robin sequence, Flexion contr... OMIM:300868
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Arthro... OMIM:618265
Alg1-Cdg
Kyphosis, Respiratory failure, Protein-losing enteropathy, Scoliosis ORPHA:79327
Letterer-Siwe Disease
Stomatitis, Dyspnea, Jaundice, Pallor OMIM:246400
Dowling-Degos Disease
Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic papule, Generalized abnormality of skin ORPHA:79145
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Ectodermal dysplasia, Scaling skin, Atrichia, Death in childhood, Neonat... OMIM:308205
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Thin upper lip vermilion, Respiratory distress, Sparse eyelashes, ... OMIM:612863
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Myopathy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in chil... OMIM:614922
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Micrognathia, Short neck... ORPHA:1834
Mycetoma
Back pain, Abnormality of the knee, Prominent superficial veins, Abnormal thorax morphology, Abno... ORPHA:2583
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Abnormal respiratory system p... ORPHA:449280
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... OMIM:615512
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Irregu... ORPHA:289157
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Orthok... OMIM:604777
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... ORPHA:90051
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Mild postnatal growth retardation, Abnormal oral mu... ORPHA:2136
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, White hair, Abnormal finger morphology, Cuta... ORPHA:896
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Scoliosis, Cutis laxa OMIM:614434
Limb-Mammary Syndrome
Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Cleft hard palate, Cleft lip, Sparse eyebrow... ORPHA:69085
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Short neck, Beaded ribs, Bowing of the legs, Narrow chest... OMIM:200600
Fucosidosis
Decreased muscle mass, Abnormality of the dentition, Kyphosis, Vascular skin abnormality, Anterio... ORPHA:349
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Sh... OMIM:311200
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Accessory or... OMIM:211750
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... OMIM:616229
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat... ORPHA:50945
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Apnea, Tapered toe, Tapered finger, Lo... OMIM:608836
Cerebellofaciodental Syndrome
Short stature, Short neck, Sparse eyebrow, Tapered finger, Dental malocclusion, Shortening of all... OMIM:616202
Lymphatic Malformation 12
Neonatal death, Hyperkeratosis, Neonatal respiratory distress, Death in adolescence OMIM:620014
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Gm1-Gangliosidosis, Type I
Death in infancy, Severe short stature, Thickened ribs, Short neck, Kyphosis, Gingival overgrowth... OMIM:230500
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... OMIM:180700
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v... ORPHA:444013
Trichothiodystrophy 8, Nonphotosensitive
Thin upper lip vermilion, Sparse eyebrow, Cutis laxa, Ankle clonus, Long philtrum, Sparse hair, W... OMIM:619691
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydac... OMIM:617088
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short stature, Cleft soft palate, Highly arched eyebrow, Micrognathia, Short neck, Hypoxemia, Pul... ORPHA:2282
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Dyspnea, Wide anterior fontanel, Rhabdo... ORPHA:26791
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Genu recurvatum, Overlapping toe, Flexion contracture, Elbow flexion cont... OMIM:617301
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... OMIM:613091
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Gingival bleeding, Left ventricular hypertrophy, Volvulus, Bruisin... ORPHA:335
Menkes Disease
Alopecia, Brittle hair, Short stature, Wormian bones, Metaphyseal spurs, Metaphyseal widening, Cu... OMIM:309400
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Severe short stature, Intestinal pseudo-obstruction, Short stature, Sh... OMIM:309900
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... ORPHA:52430
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o... OMIM:608670
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas... OMIM:200980
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Erythema, Growth delay, Urticaria, Arthritis, Recurrent aphthous stomatit... ORPHA:343
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy ORPHA:369840
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Long thorax, Short phil... OMIM:616268
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Redundant neck skin, Overlapping toe, Craniosynostosis, Gingiv... OMIM:123790
Double Outlet Right Ventricle
Cyanosis, Short stature, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft pa... ORPHA:3426
Kabuki Syndrome 2
Natal tooth, Brachydactyly, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth ... OMIM:300867
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Short neck, Missing ribs, Short tibia, Humeroradial synostosis, A... OMIM:251230
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Kyphosis, Synophrys, Pec... ORPHA:476126
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Knee flexion contracture... OMIM:148210
Becker Nevus Syndrome
Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus c... ORPHA:64755
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Short neck, Bowing of the legs, Knee flexion contracture, Pectus carinatum, Abnorma... OMIM:271665
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morph... ORPHA:1782
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Hyperkeratosis, Scoliosis ORPHA:2611
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Short stature, Narrow chest, Abnormal metaphysis morphology ORPHA:1861
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea... ORPHA:1318
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Bruising susceptibility, Kyphosis, Striae distensae OMIM:219080
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Loeys-Dietz Syndrome 2
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Syndactyly, Arachnodact... OMIM:610168
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Telangiectasia of the skin, Generalized amyotrophy, Telangiectasia ORPHA:79279
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... OMIM:610910
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Kyphoscoliosis OMIM:618339
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow pala... OMIM:180849
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Striae distensae... OMIM:619656
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Scoliosis, Delayed puberty, Microdont... OMIM:619718
Pachyonychia Congenita 2
Natal tooth, Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eye... OMIM:167210
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Short stature, Toe syndactyly, Delayed eruptio... ORPHA:819
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Pallor OMIM:613839
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Mandibular prognathia, Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse eyel... OMIM:137940
Waldenström Macroglobulinemia
Cutis marmorata, Epistaxis, Malabsorption, Respiratory insufficiency, Urticaria, Gingival bleedin... ORPHA:33226
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Thoracic hypoplasia, Micrognathia, Respiratory in... OMIM:224410
Diamond-Blackfan Anemia
Short stature, Cleft soft palate, Micrognathia, Short neck, Cleft lip, Short thumb, Absent thumb,... ORPHA:124
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Micrognathia OMIM:607598
Aortic Aneurysm, Familial Thoracic 10
Dental crowding, Pectus excavatum, High palate, Scoliosis, Left ventricular hypertrophy, Striae d... OMIM:617168
Non-Functioning Paraganglioma
Pallor, Flushing ORPHA:94080
Nijmegen Breakage Syndrome
Abnormal hair quantity, Skeletal muscle atrophy, Anal stenosis, Short stature, Rhabdomyosarcoma, ... ORPHA:647
Recombinant 8 Syndrome
Redundant skin, Camptodactyly of finger, Micrognathia, Cleft upper lip, Abnormality of the dentit... ORPHA:96167
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Micrognathia, Oral ulcer, Downt... OMIM:617052
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Respiratory failure ORPHA:70472
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Villous atrophy, Brittle scalp hair, Allergic rhi... OMIM:256500
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Respiratory insufficiency, Thin ribs, Bell-sh... OMIM:166210
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
American Trypanosomiasis
Dyspnea, Aganglionic megacolon, Pallor, Cough ORPHA:3386
3Q29 Microdeletion Syndrome
Dental crowding, Abnormality of the dentition, Pectus excavatum, Tapered finger, Orofacial cleft,... ORPHA:65286
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Sh... OMIM:146510
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodi... OMIM:215140
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, Hyper... OMIM:617140
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hypertrichosis OMIM:256000
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Pallor, Exertional dyspnea ORPHA:90033
Pitt-Hopkins Syndrome
Short neck, Short metatarsal, Finger clinodactyly, Short philtrum, Acrocyanosis, Hyperventilation... ORPHA:2896
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Choanal Atresia
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom... ORPHA:137914
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Short neck, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:2234
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Alopecia, Short stature, Abnormal hair pattern, Mala... ORPHA:2315
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Pyloric stenosis, Flexion contracture, Elbow flexion contracture, Hi... OMIM:614438
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90037
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Mic... OMIM:619356
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Abnormal rib morphology,... ORPHA:83
Bencze Syndrome
Open bite, Submucous cleft hard palate, Extension of hair growth on temples to lateral eyebrow ORPHA:1241
Kyphomelic Dysplasia
Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short metacarpal, ... OMIM:211350
Nance-Horan Syndrome
Mandibular prognathia, Supernumerary tooth, Short metacarpal, Abnormality of the dentition ORPHA:627
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Abn... ORPHA:438216
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Kyphoscoliosis, Hip dysplasia, Macrodontia of permanent maxillary central ... ORPHA:466722
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... ORPHA:534
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... OMIM:252600
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Mandibulofacial Dysostosis With Alopecia
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp... OMIM:616367
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Micrognathia, Non-midline c... ORPHA:1300
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:87
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal wide... OMIM:182212
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Death in infancy, Fine hair OMIM:272300
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Torticollis, Broad hallux, Delayed cranial suture... ORPHA:276432
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Follicular hyperkerato... ORPHA:1809
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... ORPHA:828
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Micrognath... ORPHA:444072
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma... OMIM:615023
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Short stature, Micrognathia, Kyphosis, Posterior... ORPHA:1393
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pne... ORPHA:420741
Cold Agglutinin Disease
Back pain, Pallor ORPHA:56425
Aspergillosis
Chronic lung disease, Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnor... ORPHA:1163
Degcags Syndrome
Micrognathia, Synophrys, Low anterior hairline, Premature graying of hair, High palate, Pallor, D... OMIM:619488
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,... OMIM:277590
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Short stature, Congenital abnormal hair pattern, Pneumonia, Tapered finger, Growth dela... ORPHA:1867
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thumb mo... ORPHA:1120
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle ORPHA:98755
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Nance-Horan Syndrome
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... OMIM:302350
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... OMIM:613795
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Micrognathia, Cutis laxa OMIM:301045
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Gingivitis, Knee flexion contra... ORPHA:477
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90036
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Short stature, Abnormal stomach morphology, Ichthyosis ORPHA:281090
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Rectal prolapse, Osteoarthritis, Shoulder dislocation... ORPHA:287
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Postnatal growth retardation, Adducted thumb, Hip dislocation, Cutis laxa, Wormia... OMIM:616603
4H Leukodystrophy
Delayed eruption of teeth, Short stature, Abnormality of the dentition, Hypodontia, Delayed puberty ORPHA:289494
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Limb hypertonia, Hypodontia, Amelogenesis imperfecta OMIM:615905
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory... ORPHA:803
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip ve... ORPHA:583
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:618695
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Supernumerary nipple, Postaxial hand polydactyly, Abno... ORPHA:2519
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Generalized amyotroph... OMIM:264090
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... ORPHA:236
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Sparse hair, Clin... OMIM:280000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Sparse scalp hair, Short stature, Sparse eyelashes, Sagittal crani... OMIM:616901
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Parakeratosis, Psoriasiform lesion, Scaling skin ORPHA:284426
Schilbach-Rott Syndrome
Short stature, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finge... OMIM:164220
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar muscle atrophy, ... ORPHA:2463
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, Sparse hair, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Microgn... OMIM:619879
Bloom Syndrome
Sparse eyelashes, Pneumonia, Micrognathia, Esophageal neoplasm, Chronic pulmonary obstruction, Ch... ORPHA:125
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Pectus... OMIM:619472
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia, Malabsorption ORPHA:99811
Tooth Agenesis, Selective, 3
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal hair morphology, Oligodontia,... OMIM:604625
Pai Syndrome
Encephalocele, Nasal polyposis, Depressed nasal bridge, Midline defect of the nose ORPHA:1993
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood OMIM:246450
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Oral leukoplakia, Palmoplantar hyperkeratosis OMIM:167200
Waardenburg Syndrome, Type 1
Mandibular prognathia, Thick eyebrow, White eyelashes, White eyebrow, Synophrys, Orofacial cleft,... OMIM:193500
Hurler Syndrome
Death in infancy, Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short nec... ORPHA:93473
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Thin lower lip vermilion, Scoli... OMIM:619194
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Intestinal malrotation, Productive cough, Wheezing, Clubbing, Bron... ORPHA:244
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Prea... ORPHA:887
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Retrognathia, High palate, Respiratory insufficiency, Thin ribs ORPHA:456328
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Odontomicronychial Dysplasia
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Ectoder... ORPHA:1811
Distal Deletion 12Q
Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3r... ORPHA:96149
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Short stature, Short neck, Hyperkeratosis, Loose anagen hair, Hype... OMIM:607721
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Parakeratosis, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathi... ORPHA:83617
Doors Syndrome
Respiratory distress, Short lingual frenulum, Low anterior hairline, Hemivertebrae, Abnormal fing... ORPHA:79500
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Micrognathia, Short neck, Patellar aplasia, Abnormal rib ... ORPHA:96061
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Emphysema,... ORPHA:500150
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... OMIM:618022
Cantú Syndrome
Short neck, Low anterior hairline, Narrow chest, Broad ribs, Generalized hirsutism, Finger syndac... ORPHA:1517
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Intestinal obstruction, Cutis marmorata, Malabsorption, Asthma, Respiratory ... ORPHA:183
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Acute Radiation Syndrome
Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pneumonitis, Scaling skin ORPHA:454831
Kagami-Ogata Syndrome
Long clavicles, Diastasis recti, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long fi... OMIM:608149
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... ORPHA:97360
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Short palm, Short stature, Apnea, ... ORPHA:85201
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Syn... OMIM:213980
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Short stature, Broad hallux, Sandal gap, Short neck, Postnatal growth retardation, Cu... OMIM:614800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Alagille Syndrome
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Abnormal rib morphology, Abnorm... ORPHA:52
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hig... OMIM:619314
Microphthalmia, Syndromic 1
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Narrow chest... OMIM:309800
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Asthma, Short toe, Cone-shaped epiphyses of the phalanges of the han... OMIM:619269
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... ORPHA:93357
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, Na... OMIM:613610
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Respir... ORPHA:93941
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... ORPHA:2753
Spondylometaphyseal Dysplasia, Sedaghatian Type
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow gr... OMIM:250220
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Amish Lethal Microcephaly
Limb hypertonia, Death in infancy, Cleft soft palate, Micrognathia ORPHA:99742
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Short stature,... OMIM:300990
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Me... ORPHA:73230
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Abnormality of the dentition, Growth delay, Respiratory failure, Mus... ORPHA:88618
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Hypoplastic ischia, Micrognathia, Bowing of the legs, Incomplete ossification of pub... ORPHA:313855
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Micrognathia, Short neck, Short metatarsal, High palate, Widely spaced teeth, Narrow chest, Micro... OMIM:266920
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Cutis marmorata, Ankle swelling, Swelling of proxi... ORPHA:3260
Wiedemann-Rautenstrauch Syndrome
Synophrys, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Acanthosis ... ORPHA:3455
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Disproportionate short-limb short stature ORPHA:2772
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor, Gingival bleeding ORPHA:98870
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Exertional dyspnea OMIM:250800
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... OMIM:616503
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow ORPHA:209908
Myelofibrosis
Pallor, Purpura OMIM:254450
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Dry skin, Marked delay in eruption of permanent teeth, Yellow... OMIM:104570
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Vertebral hyperostosis, Abn... ORPHA:89936
Alg8-Cdg
Abnormality of subcutaneous fat tissue, Cutis laxa, Macroglossia, Camptodactyly, Intrauterine gro... ORPHA:79325
Immunodeficiency 49
Natal tooth, Micrognathia, Cutis laxa, Short philtrum, Wormian bones, Hirsutism OMIM:617237
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Xerostomia, Anterio... OMIM:604292
Fontaine Progeroid Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Hypoplasia of the abdom... OMIM:612289
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature, Trismus, Submucous cleft hard palate, Short dis... OMIM:609166
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Micrognathia, Cleft palate, P... OMIM:247200
Osteopetrosis, Autosomal Recessive 5
Short stature, Facial palsy, Micrognathia, Flared metaphysis, Gingival overgrowth, Growth delay, ... OMIM:259720
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, High ... OMIM:135900
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Pneumonia, Bowing of the legs, H... ORPHA:1855
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Hydrolethalus
Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Cleft pala... ORPHA:2189
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Skeletal muscle atrophy, Short stature, Limb joint contracture, Tapere... OMIM:301072
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of... OMIM:305100
Intellectual Developmental Disorder, Autosomal Dominant 58
Short stature, Dental crowding, Facial hypotonia, Protruding tongue, Submucous cleft hard palate,... OMIM:618106
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Micrognath... ORPHA:37553
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Pect... ORPHA:77301
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contrac... OMIM:619036
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Short stature, Exag... ORPHA:261494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Synophrys, T... OMIM:610253
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn... OMIM:154400
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Sotos Syndrome
Mandibular prognathia, Sparse eyebrow, High, narrow palate, Long metacarpals, Narrow jaw, Narrow ... OMIM:117550
Naxos Disease
Curly hair, Subungual hyperkeratosis, Abnormal morphology of right ventricular trabeculae, Acanth... OMIM:601214
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Exaggerated cupid's bow, Apnea, Downturned corners of mou... ORPHA:2131
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Short lingual frenulum, Midgut malrotation, Cleft palate, Growth delay, ... ORPHA:2326
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenit... OMIM:208150
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Dental malo... OMIM:269500
Mandibuloacral Dysplasia Progeroid Syndrome
Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short philtrum, Deat... OMIM:619127
1Q41Q42 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Growth... ORPHA:250999
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Bruising susceptibility, Striae distensae OMIM:610475
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Respiratory failure, Limb joint contracture, Limb hypertonia OMIM:620327
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Acanthosis nigricans, Skeletal muscle hypertrophy, Myo... ORPHA:2348
Oculocerebrocutaneous Syndrome
Finger syndactyly, Alopecia, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing... ORPHA:1647
Hereditary Spherocytosis
Jaundice, Gout, Skin ulcer, Growth delay, Pallor ORPHA:822
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins OMIM:615907
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... ORPHA:747
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Abnormal thorax morpho... ORPHA:508542
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Short stature, Hip dislocation, Growth delay, Oligodontia... OMIM:614381
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... OMIM:192445
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Short stature, Cleft soft palate, Tapered finger, Pectus excavatum,... ORPHA:268261
Ctcf-Related Neurodevelopmental Disorder
Synophrys, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads, Microdo... ORPHA:363611
Elliptocytosis 1
Jaundice, Pallor OMIM:611804
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck,... ORPHA:508488
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp... OMIM:618727
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragma... ORPHA:261344
Barber-Say Syndrome
Delayed eruption of teeth, Redundant skin, Wide mouth, Sparse or absent eyelashes, Hyperextensibl... ORPHA:1231
Dubowitz Syndrome
Delayed eruption of teeth, Sparse scalp hair, Sacral dimple, Syndactyly, Short stature, Micrognat... OMIM:223370
Focal Dermal Hypoplasia
Brittle hair, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, S... OMIM:305600
Prune Belly Syndrome
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Ap... ORPHA:2970
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Hypoplasia of the nasal bone, Moderate postnatal g... OMIM:118650
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis OMIM:617105
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Growth delay, Polyarticular arthritis, Follicular hyperkeratosis, Dr... OMIM:617388
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Highly arched eyebrow, Mi... ORPHA:75857
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Alopecia, Striae distensae, Dorsocervical fat pad, Proximal amyotrophy, Bruising suscep... ORPHA:189427
Fanconi Anemia, Complementation Group C
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Flexion contracture, Ante... OMIM:227645
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Tricuspid Atresia
Cyanosis ORPHA:1209
Cockayne Syndrome B
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... OMIM:133540
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short stature, Short neck, Short toe, Short metatars... OMIM:103580
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Short stature, Telangiectasia o... ORPHA:910
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Acroosteolysis of distal phalanges (feet), Progeroid facial ... ORPHA:280365
Fraser Syndrome 2
Intestinal malrotation, Short neck, Rectal atresia, Low anterior hairline, Short thorax, Cutaneou... OMIM:617666
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h... ORPHA:563
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Short distal phalanx... OMIM:109400
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Short sta... OMIM:600373
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology, Ichthyosis ORPHA:171851
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Intestinal malrotation, Pectus excavatum, Tachypnea, Esophageal varix, Respiratory... OMIM:613658
Cockayne Syndrome A
Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... OMIM:216400
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Myopathy, Short stature, Abnormal dental enamel morphology ORPHA:2238
Endocrine-Cerebroosteodysplasia
Barrel-shaped chest, Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cl... OMIM:612651
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Abnormality of the dentition, Tapered finger, Thick lower lip vermili... ORPHA:261652
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abnormality of the ex... ORPHA:298
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Cyanosis, Apnea, Protruding tongue OMIM:619580
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Micrognathia, Short neck, Proximal placement of thumb, Synophrys... ORPHA:199
Chromomycosis
Hyperparakeratosis, Hyperkeratosis, Abnormal oral cavity morphology, Hyperkeratotic papule, Vascu... ORPHA:182
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Supernumer... ORPHA:457279
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Laterally curved eye... OMIM:300166
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutis marmorata, Recurrent pneumonia, Clubbing, Bronchiectasis, Hyperkeratosis, Colitis, Frontal ... OMIM:301220
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis OMIM:615147
Criss-Cross Heart
Abnormal thorax morphology, Cyanosis, Respiratory insufficiency ORPHA:1461
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation ... OMIM:312870
Cushing Disease
Plethora, Sparse scalp hair, Dorsocervical fat pad, Poor wound healing, Intra-oral hyperpigmentat... ORPHA:96253
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra... ORPHA:300605
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Cyanosis, Apnea, Ragged-red muscle fibers, Respiratory... OMIM:252010
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb amyotrophy, Respiratory failure, Short stature, Abnormal morphology of musculature of ... ORPHA:280210
Childhood Absence Epilepsy
Pallor, Hyperventilation ORPHA:64280
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Jaundice, Pallor, Skin ulcer ORPHA:231222
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Abnormality of the dentition, Micrognathia, Thin ribs, Femoral bowing, ... OMIM:617952
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Inspiratory stridor OMIM:207950
Kbg Syndrome
Tented upper lip vermilion, Short neck, Synophrys, Low anterior hairline, Widely-spaced maxillary... OMIM:148050
Desmosterolosis
Severe short stature, Intestinal malrotation, Micrognathia, Metatarsus adductus, Submucous cleft ... ORPHA:35107
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Short stature, Submucous cleft hard palate, Flexion contracture, Generalized limb m... OMIM:618891
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Aspiratio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Aspiratio... ORPHA:353277
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Short tibia, Ulnar bowing, Short 1st metacarpal, Thin ribs, Femoral bo... OMIM:620076
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Thic... OMIM:277600
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... OMIM:610915
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Sparse hair, Intra... OMIM:620186
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Xerostomia, Ectoder... OMIM:129900
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Death ... OMIM:610505
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Sandal gap, Redundant skin, Progeroid faci... OMIM:613177
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cleft palate, Pallor, Cough ORPHA:137675
Aregenerative Anemia
Dyspnea, Bruising susceptibility, Pallor ORPHA:101096
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Imerslund-Gräsbeck Syndrome
Glossitis, Pallor, Angular cheilitis ORPHA:35858
Cog1-Cdg
Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognat... ORPHA:263508
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Aicardi-Goutieres Syndrome 1
Short stature, Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Pete... OMIM:225750
Neonatal Marfan Syndrome
Long toe, Neonatal respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Long ... ORPHA:284979
Warburg-Cinotti Syndrome
Dental crowding, Ankle flexion contracture, Poor wound healing, Erythema, Elbow flexion contractu... OMIM:618175
C Syndrome
Joint dislocation, Redundant skin, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hig... ORPHA:1308
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Wormian bones, Hyperlordosis, Kyphosis, H... OMIM:617821
Leigh Syndrome
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Growth delay, Myopathy, Respirato... ORPHA:506
Ogden Syndrome
Redundant neck skin, Apnea, Redundant skin, Congenital hip dislocation, Micrognathia, Short neck,... OMIM:300855
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ... ORPHA:798
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Short stature, Oligodontia, Hypodontia, Delayed puberty ORPHA:447896
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Dia... OMIM:259710
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short stature, Short neck, Short metatarsal, Enamel ... OMIM:612462
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... OMIM:208500
Acquired Purpura Fulminans
Acrocyanosis, Pyoderma gangrenosum, Macular purpura ORPHA:49566
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Short stature, Dental crowding, Highly arched eyebrow, Mic... OMIM:145420
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Severe short stature, Abnormal dental enamel morphology, Con... ORPHA:2556
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Ectodermal dy... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Ectodermal dy... ORPHA:363958
Retinitis Pigmentosa 75
Pallor OMIM:617023
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth, Ectodermal dysplasia, Hypoplastic nipples, Breast hypoplasia OMIM:129550
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... OMIM:218600
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... ORPHA:280
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Short stature, Bowed humerus, Kyphoscoliosis, Thin long bone diaphyses, Hi... OMIM:616507
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in... OMIM:613845
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Short stature, Pneumonia, Carious teeth, Metaphyseal chondr... ORPHA:811
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Immunodeficiency 13
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections OMIM:615518
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail ... OMIM:615726
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Thickened skin, Metaphyseal sclerosis, Leukonyc... ORPHA:2905
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Hypoplasia of the mu... ORPHA:2912
Opitz Gbbb Syndrome
Natal tooth, Prominent metopic ridge, Short stature, Congenital diaphragmatic hernia, Micrognathi... ORPHA:2745
Cleft Soft Palate
Cleft soft palate OMIM:119570
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Facial hypertrichosis, Postnatal gr... ORPHA:508
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, High palate, Pallor OMIM:606812
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Osteogenesis Imperfecta, Type Vii
Death in infancy, Multiple rib fractures, Crumpled long bones, Rhizomelia, Short stature, Femoral... OMIM:610682
Kagami-Ogata Syndrome
Pursed lips, Respiratory failure requiring assisted ventilation, Diastasis recti, Kyphoscoliosis,... ORPHA:254519
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... OMIM:135500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Sparse hair, Abnormal vertebral morphology, Absent eyebrow, Alopecia, Abnormal dental enamel morp... ORPHA:2273
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Bruising susceptibility, Striae distensae OMIM:610489
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, S... ORPHA:353281
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super... OMIM:615948
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Mitochondrial Trifunctional Protein Deficiency
Equinus calcaneus, Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory fail... ORPHA:746
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmon... ORPHA:2038
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Short stature, Death in childhood OMIM:619847
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Clubbing of fingers... ORPHA:199241
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo... ORPHA:329971
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Trisomy 18
Microretrognathia, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Esoph... ORPHA:3380
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Short stature, Asthma, Recurrent pneumonia, ... ORPHA:209905
Charge Syndrome
Abnormal tibia morphology, Hemivertebrae, Clinodactyly of the 5th finger, Short stature, Facial p... ORPHA:138
Beta-Ketothiolase Deficiency
Tachypnea, Pallor, Cough ORPHA:134
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Orofacial cle... ORPHA:3301
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM... OMIM:618733
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abnorm... ORPHA:653
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Abnormality of hair pigmentation, Cl... ORPHA:90354
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Eosinophilic infiltration of the esophagus, Malabsorption, Orthoke... OMIM:615508
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha... OMIM:263520
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Hallux valgus, Short s... OMIM:614188
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Short philtrum, Retrognathia, Smooth philtrum, Adducted thumb ORPHA:293725
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Ankle flexion contracture, Micrognathia, Long eyelashes, Volvulus OMIM:617802
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti... ORPHA:3214
Myotonic Dystrophy 2
Weakness of facial musculature, Type 2 muscle fiber atrophy, Generalized amyotrophy, Sternocleido... OMIM:602668
Senior-Loken Syndrome 8
Polydactyly, Pallor OMIM:616307
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joint subluxati... OMIM:182250
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Chronic rhinitis OMIM:617092
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Wormian bones, Soft skin, Apnea, Malabsorption, Abnormality of the dentition, ... ORPHA:285
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Tapered finger, Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermi... ORPHA:86818
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Epistaxis, Malabsorption, Thickened ... ORPHA:79430
Mitochondrial Trifunctional Protein Deficiency 1
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency OMIM:609015
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Bare Lymphocyte Syndrome, Type I
Nasal polyposis OMIM:604571
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Mild postnatal growth retardation, Micrognathia, Deep p... OMIM:150230
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea, Pallor ORPHA:20
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, A... ORPHA:95699
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Highly arched eyebrow, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced te... OMIM:617865
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Short ... ORPHA:249
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Weakness of... OMIM:617239
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Flushing ORPHA:276621
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Torticollis, Death in childhood OMIM:617186
Fabry Disease
Conjunctival telangiectasia, Short stature, Angiokeratoma, Telangiectasia of the skin, Malabsorpt... ORPHA:324
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Abnorm... ORPHA:99845
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Malabsorption... ORPHA:50
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Wide mouth, Unilat... OMIM:619103
Walker-Warburg Syndrome
Skeletal muscle atrophy, Submucous cleft hard palate, Cleft palate, Muscular dystrophy, Metatarsu... ORPHA:899
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Right ventricular hypertrophy ORPHA:860
Overlap Myositis
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... ORPHA:206572
Polymyositis
Abnormal muscle fiber morphology ORPHA:732
Eosinophilic Fasciitis
Acrocyanosis, Arthritis, Myositis, Muscular edema ORPHA:3165
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Down... OMIM:194190
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Alopecia, Abnormal oral mucosa morphology, Pneumoni... ORPHA:79404
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Postnatal ... ORPHA:1465
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Pallor OMIM:194380
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Cleft soft palate, Intestinal malrotation, Flexion contracture, Genu val... OMIM:619321
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Tapered finger, Submucous cleft hard palate, Downturned co... OMIM:619680
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Furrowed tongue, Coarse hair,... OMIM:158310
Dermatomyositis
Abnormal hair quantity, Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Skin... ORPHA:221
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Genu recurvatum, Postnatal grow... ORPHA:90348
Monosomy 9P
Congenital diaphragmatic hernia, Micrognathia, Abnormality of the dentition, Highly arched eyebro... ORPHA:261112
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, High palate, Foot oligodactyly, Apla... OMIM:276820
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, ... OMIM:615510
Kanzaki Disease
Telangiectasia of the oral mucosa, Thick lower lip vermilion, Lip telangiectasia, Angiokeratoma c... OMIM:609242
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Carpenter Syndrome 2
Short neck, High, narrow palate, Low anterior hairline, Preaxial polydactyly, Coxa vara, Knee fle... OMIM:614976
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... OMIM:112250
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Dental crowding, Kyphoscoliosis, High, narrow palate, Narrow mouth, Kyphosis, Wide... OMIM:300967
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid facial appearance, Dys... OMIM:123700
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Pyknoachondrogenesis
Craniofacial hyperostosis, Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wi... ORPHA:3003
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Neuropathic arthropathy, Hypogeusia, Growth delay, Decreased sensitivity to hypoxemia, Scoliosis,... OMIM:223900
Cockayne Syndrome Type 1
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... ORPHA:90321
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Respiratory failure requiring assisted ventilation, Epiphyseal dysplas... ORPHA:1675
Fryns Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Prominent fingertip pads, Br... OMIM:229850
Systemic Mastocytosis With Associated Hematologic Neoplasm
Urticaria, Peptic ulcer, Pallor, Flushing ORPHA:98849
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Ciliary Dyskinesia, Primary, 30
Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
Teeth Present At Birth
Natal tooth OMIM:187050
Idiopathic Camptocormia
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... ORPHA:1320
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, Neonatal death, R... OMIM:617248
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, H... ORPHA:373
Agel Amyloidosis
Tongue atrophy, Facial palsy, Xerostomia, Cutis laxa, Nail dystrophy, Sparse hair, Dry skin, Derm... ORPHA:85448
Joubert Syndrome 21
Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, Short ribs, Chronic sinusitis OMIM:615636
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness, Ankle clonus ORPHA:206436
Cowden Syndrome
Brachydactyly, Short stature, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposi... ORPHA:201
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Distal amyotrophy, Increased variability in muscle fiber diame... OMIM:164310
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis, Clubbing ORPHA:439
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Neonatal Lupus Erythematosus
Hyperkeratosis, Parakeratosis, Cutaneous photosensitivity ORPHA:398124
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Short stature, Submucous cleft hard palate, Bifid uvula, Butterfly vertebrae OMIM:617660
Loeys-Dietz Syndrome 1
Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosynostosis, Posta... OMIM:609192
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Short stature, Craniosynostosis, Malabsorption, Abnormal sacroiliac jo... ORPHA:289176
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Reduced subcutaneous adipose tissue, Prominent superficial veins, Short st... OMIM:617402
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Airway obstruction, Clubbin... ORPHA:99106
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... OMIM:149730
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... ORPHA:98908
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Calcinosis, Short stature, Cortical subperiosteal resorption of humera... ORPHA:94089
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure, Epiphyseal stippling OMIM:614862
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis OMIM:244400
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
3-Methylglutaconic Aciduria Type 7
Growth delay, Respiratory failure, Pneumothorax ORPHA:445038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Refractory Anemia With Excess Blasts
Anemic pallor, Exertional dyspnea ORPHA:86839
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Cutis Laxa, Autosomal Recessive, Type Ia
Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, Pectus excavatum, Cutis laxa, Em... OMIM:219100
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Pect... OMIM:614437
Cardiac Valvular Dysplasia, X-Linked
Thick vermilion border, Cutis laxa OMIM:314400
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle OMIM:607426
Leprosy
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Epistaxis, Loss of eyelashes, Penetrating foot... ORPHA:548
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... OMIM:613327
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Dental crowding, Delayed eruption of primary teeth, Apnea, Growth delay, Widely sp... OMIM:617799
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Accessory oral fre... ORPHA:434179
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Calcinosis, Short metacarpal, Short fifth metatarsal, Short stature, S... ORPHA:79444
Osteopetrosis With Renal Tubular Acidosis
Short stature, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Pectus e... ORPHA:2785
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Erythema, Death in childhood, Pallor, Steatorrhea OMIM:557000
Non-Functioning Pituitary Adenoma
Abnormal hair quantity, Pallor ORPHA:91349
Prolactinoma
Abnormal hair quantity, Pallor, Delayed puberty ORPHA:2965
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Pallister-Hall Syndrome
Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Short statur... ORPHA:672
Sheehan Syndrome
Sparse axillary hair, Sparse pubic hair, Pallor, Dry skin, Breast hypoplasia ORPHA:91355
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... OMIM:600901
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... ORPHA:93325
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Flushing ORPHA:29072
Reactive Arthritis
Respiratory insufficiency, Hyperkeratosis, Inflammation of the large intestine, Arthritis, Joint ... ORPHA:29207
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Adnp Syndrome
Respiratory distress, Thin upper lip vermilion, Sparse scalp hair, Short stature, Broad hallux, S... ORPHA:404448
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Redundant neck skin, Short stature, Dental crowding, Short metacarpal, Short neck,... OMIM:617157
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Conical incisor, Ectodermal dysplasia, Aplasia of the eccrine sweat glands OMIM:300291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy OMIM:616538
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Shor... ORPHA:2044
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Asthma, Abnormal respiratory system physiology, Delayed p... ORPHA:330015
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail... ORPHA:79501
Macrocephaly/Autism Syndrome
Long philtrum, Coarse hair, High palate, Cutis laxa OMIM:605309
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Alopecia, Tented upper lip vermilion, Intestinal pseudo-obstruction, Res... ORPHA:273
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... OMIM:227650
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Micrognathia, Embryonal rhabdomyosarcoma, Hyperkeratosis, Hammertoe, Adenocarcinoma of the colon OMIM:620189
Meige Disease
Pleural effusion, Cobblestone-like hyperkeratosis, Skin ulcer ORPHA:90186
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Back pain, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy... ORPHA:340
Tyrosinemia Type 2
Hyperkeratosis, Malar flattening, Palmoplantar keratoderma ORPHA:28378
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Proteus Syndrome
Decreased muscle mass, Pulmonary embolism, Abnormal finger morphology, Abnormal form of the verte... ORPHA:744
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Macroglossia, Myopathy, Pleural effusion OMIM:261740
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature, Absent thumb, Absent radius, Esophageal atresia, Short thumb, Preax... OMIM:227646
Neuroocular Syndrome
Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Downturned cor... OMIM:619539
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... OMIM:175100
Adrenocortical Carcinoma
Striae distensae, Hypertrichosis ORPHA:1501
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Premature loss of permanent teeth, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail ... OMIM:610644
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of ... ORPHA:31826
Hardikar Syndrome
Short stature, Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease... OMIM:301068
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Submucous cleft hard palate, Vertebral clefting, Cleft palate, So... OMIM:301043
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Cutis laxa OMIM:610842
Camptodactyly Syndrome, Guadalajara Type 3
Broad femoral neck, Short neck, Thickened cortex of long bones, Spina bifida occulta, Abnormal ri... ORPHA:488434
Malignant Atrophic Papulosis
Intestinal fistula, Telangiectasia of the skin, Intestinal perforation, Respiratory failure, Pleu... ORPHA:679
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Celiac disease, Asthma, Cardio... ORPHA:293987
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Dyspnea... ORPHA:79138
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Widely spaced teeth, Hypodontia, Mic... ORPHA:90024
Adenohypophysitis
Pallor ORPHA:95512
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Respiratory failure ORPHA:3240
Listeriosis
Respiratory distress, Back pain, Miscarriage, Pneumonia, Jaundice, Rhabdomyolysis, Respiratory fa... ORPHA:533
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Cleft palate, Cutis laxa, Rectovaginal fistula, Anal atresia OMIM:270420
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Nonproductive cough, Dyspnea, Recurrent p... ORPHA:980
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Recurrent pneumonia, Dental crowding, Hiatus hernia OMIM:619769
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parot... OMIM:154500
Meckel Syndrome, Type 1
Micrognathia, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydacty... OMIM:249000
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pallor, Cough, Exe... OMIM:233450
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... ORPHA:141127
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, Low anterior hairline, High palate, Short stature, Facial palsy, Highly ... OMIM:619325
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Congenital contracture, Abnormal dental morphology, Agenesis o... ORPHA:191
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Intestinal perforation, Dyspnea, Pleural empyema, Pallor, Septic arthritis, Intussusce... ORPHA:544482
Panhypophysitis
Pallor ORPHA:95513
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal clavicle morphology, Thick hair, Abnormality of the dentition... ORPHA:581
Congenital Disorder Of Glycosylation, Type Iiw
Micrognathia, Pectus excavatum, Supernumerary tooth, Pectus carinatum, Narrow chest, Scoliosis, P... OMIM:619525
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Sparse scalp hair, Dorsocervical fat pad, Neoplasm of the stomach, Poor wound healing, ... ORPHA:99889
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgna... OMIM:601803
Gardner Syndrome
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:79665
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Calcinosis, Short metacarpal, Short fifth metatarsal, Short stature, S... ORPHA:79443
Pituitary Apoplexy
Pallor ORPHA:95613
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Genu valgum ORPHA:488627
Nelson Syndrome
Quadriceps muscle atrophy, Abnormality of the sphenoid sinus, Lower limb muscle weakness, Striae ... ORPHA:199244
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism ORPHA:79431
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Velocardiofacial Syndrome
Short stature, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, ... OMIM:192430
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... ORPHA:100050
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Chromosome 1P36 Deletion Syndrome, Distal
Synophrys, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Abnormality... OMIM:607872
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size OMIM:209900
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Wrist drop, Talipes equin... ORPHA:1900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Short humerus, Short femur, Ragged-red muscle fibers, Flexion contractur... ORPHA:17
Familial Adenomatous Polyposis
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:733
Tolchin-Le Caignec Syndrome
Thick eyebrow, Arachnodactyly, Diastasis recti, Micrognathia, Submucous cleft hard palate, High p... OMIM:618971
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... ORPHA:261537
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Milroy Disease
Hyperkeratosis, Ankle swelling ORPHA:79452
Abetalipoproteinemia
Kyphoscoliosis, Myopathy, Respiratory failure, Steatorrhea, Fat malabsorption, Distal lower limb ... ORPHA:14
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Highly arched eyebrow, Pectus excavatum, Widow's peak, Short toe, Orofacial cl... ORPHA:1519
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ... ORPHA:79280
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m... ORPHA:79102
Myasthenia Gravis
Dyspnea, Myositis, Acrocyanosis, Rheumatoid arthritis ORPHA:589
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... ORPHA:2152
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ... ORPHA:521445
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Jaundice, Recurrent pneumonia, Esophagea... ORPHA:731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Everted lower lip vermilion, Pallor, Muscular dystrophy, Malar flattening OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Apneic episod... ORPHA:99125
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Epistaxis, Carious teeth, Enterocolitis, Ulcerative colitis, Oral ulcer, Growth de... ORPHA:79259
Von Hippel-Lindau Disease
Upper limb muscle weakness, Back pain, Distal lower limb muscle weakness, Pallor ORPHA:892
Odontomicronychial Dysplasia
Premature eruption of permanent teeth, Short nail OMIM:601319
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ... ORPHA:254892
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Short stature, Cutis marmorata, Dry skin, Arthritis, Scoli... ORPHA:51
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Redundant skin, Kyphoscoliosis, Pneumothorax, Hip dislocatio... OMIM:617403
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... ORPHA:247806
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Death in childhood OMIM:618252
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Absence of the sacrum, Cyanosis, Block vertebrae, Congenital hip dislocatio... OMIM:306955
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... ORPHA:261552
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Short stature, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion,... OMIM:157800
Double Outlet Left Ventricle
Cyanosis, Tachypnea, Orofacial cleft ORPHA:3427
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers OMIM:603041
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Lymphatic Filariasis
Ankle swelling, Wheezing, Knee osteoarthritis, Hyperkeratosis, Restrictive ventilatory defect, Cough ORPHA:2035
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Pallor, Delayed puberty ORPHA:91347
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Overlapping toe OMIM:617478
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Bowing of the long bones ORPHA:199276
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Short stature, Respiratory insufficiency, Cutis laxa, Fine hair, Hyperex... OMIM:222700
Vater/Vacterl Association
Syndactyly, Postnatal growth retardation, Esophageal atresia, Short thumb, Absent radius, Abnorma... OMIM:192350
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Short stature, Supernumerary nipple, Pectus exc... OMIM:235730
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Peutz-Jeghers Syndrome
Neoplasm of the nose, Nasal polyposis, Abnormality of the nose ORPHA:2869
Primary Hyperoxaluria
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... ORPHA:416
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Williams-Beuren Syndrome
Rectal prolapse, Flexion contracture, Premature graying of hair, Microdontia, Clinodactyly of the... OMIM:194050
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Growth ... ORPHA:3047
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Telangiectasia, Bilateral coxa valga, Cutaneous photosensiti... OMIM:278800
Pseudoxanthoma Elasticum
Decreased DLCO, White oral mucosal macule, Cutis laxa OMIM:264800
Carney Complex
Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Hirsutism, Bruising suscepti... ORPHA:1359
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Sparse scalp hair, Congenital hip disl... OMIM:606170
Familial Dysautonomia
Growth delay, Acrocyanosis, Scoliosis ORPHA:1764
Generalized Arterial Calcification Of Infancy
Respiratory distress, Abnormality of the knee, Cyanosis, Myocardial calcification, Stippled calci... ORPHA:51608
Melas
Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:550
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation OMIM:616749
Benign Schwannoma
Nasal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, A... ORPHA:252164
Truncus Arteriosus
Cyanosis, Tachypnea, Aplasia/hypoplasia involving bones of the extremities, Intrauterine growth r... ORPHA:3384
Niemann-Pick Disease Type C
Jaundice, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insufficiency, Respir... ORPHA:646
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Left ventricular hypertrophy, Exertional dyspnea ORPHA:2299
Granulomatosis With Polyangiitis
Concave nasal ridge, Nasal mucosa vasculitis, Retinal hemorrhage OMIM:608710
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Dextrocardia
Congenital hip dislocation, Meckel diverticulum, Abnormal rib morphology, Intestinal malrotation ORPHA:1666
Sotos Syndrome
Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Ankle flexion contracture, Abnor... ORPHA:821
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth ORPHA:314647
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers ORPHA:255210
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypo... ORPHA:97214
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Macrodactyly, 2-4 toe syndactyly, Hyperparakeratosis, Foot polydactyl... ORPHA:276280
Charge Syndrome
Micrognathia, Hemivertebrae, Hand monodactyly, Hypoplasia of the ulna, Facial palsy, Cleft upper ... OMIM:214800
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Scoliosis... OMIM:157170
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Pagod Syndrome
Death in infancy, Abnormal clavicle morphology, Short stature, Congenital diaphragmatic hernia, A... ORPHA:991
Townes-Brocks Syndrome
Broad hallux phalanx, Toe clinodactyly, Rectoperineal fistula, Short stature, Toe syndactyly, Pre... ORPHA:857
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Breast aplasia, Sparse hair, Abnormality of the dentition ORPHA:2036
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers OMIM:124000
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:881
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth OMIM:300952
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Prolonged neonatal jaundice, Butt... OMIM:118450
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Peutz-Jeghers Syndrome
Nasal polyposis OMIM:175200
Choreoacanthocytosis
Muscle fiber atrophy, Myopathy, Distal amyotrophy, Peroneal muscle atrophy ORPHA:2388
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Cystic Fibrosis
Nasal polyposis OMIM:219700
Sarcoidosis
Abnormal nasal mucosa morphology, Facial palsy, Eosinophilia ORPHA:797
Cystic Fibrosis
Nasal polyposis ORPHA:586

Histopathology

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

There is no histopathology data for Fst

IMPC related publications

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

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

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MGI Allele Allele Type Produced
Fsttm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fstem1(IMPC)Wtsi Deletion Mice
Fsttm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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