Not currently registered for phenotyping at IMPC

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

Gene Summary

cytochrome P450, family 26, subfamily b, polypeptide 1
CP26,  P450RAI-2,  retinoic acid B1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Cyp26b1 mutations

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

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

The table below shows human diseases associated to Cyp26b1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Oligodactyly, Occipital encephalocele, Humeroradial synostosis OMIM:614416

The table below shows human diseases predicted to be associated to Cyp26b1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Follicular hyperkeratosis, Palmoplantar keratoderma OMIM:613000
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Pruritus, Perifollicular hyperkeratosis, Sparse pubic hair, Spars... ORPHA:505
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Hyperkeratosis ORPHA:1659
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, ... ORPHA:141152
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Orofaciodigital Syndrome Type 10
Oligodactyly, Retrognathia, Hypoplasia of proximal radius, Metatarsal synostosis, Polysyndactyly ... ORPHA:2756
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy ORPHA:79503
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis OMIM:101900
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Palmoplantar Keratoderma, Nagashima Type
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:615598
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Micrognathia OMIM:172880
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Hyperkeratosis, Nail dystrophy OMIM:300652
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormal finger morphology, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Cenani-Lenz Syndrome
Foot oligodactyly, Oligodactyly, Hip dislocation, Short thumb, Malar flattening, Downslanted palp... ORPHA:3258
Acrofacial Dysostosis Syndrome Of Rodriguez
Single transverse palmar crease, Oligodactyly, 11 pairs of ribs, Overlapping toe, Wide anterior f... OMIM:201170
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Retrognathia, Mesomelic leg shortening, Mesomelic arm shortening, Microg... OMIM:249710
Anonychia With Flexural Pigmentation
Alopecia of scalp, Follicular hyperkeratosis, Hyperkeratosis, Abnormal hair morphology ORPHA:69125
Square pelvis bone, Retrognathia, Abnormal metaphysis morphology, Coxa valga, Death in infancy, M... ORPHA:166272
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Short greater sciatic notch, Limb undergrowth, Malar flattening, Flat acet... OMIM:256050
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Micrognathia, Abnormal morphology of ulna, Hand oligodactyly, Cli... ORPHA:3104
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Recurrent cutaneous abscess formation, Follicular hyperkeratosis, Perifolliculitis,... OMIM:613736
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Limb undergrowth, Micromelia, Respiratory distress, Short long bone, Mic... ORPHA:1423
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Oligodactyly, Absent radius, Missing ribs, Short tibia, Short palpebral fiss... OMIM:251230
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Broad palm, Short foot, Brac... OMIM:611263
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... OMIM:619177
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Malar flattening, Short 5th finger, Apl... ORPHA:52056
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... OMIM:183600
Auriculocondylar Syndrome 2
Snoring, Temporomandibular joint ankylosis, Short mandibular rami, Apnea, Respiratory distress, M... OMIM:614669
Hypotrichosis 6
Follicular hyperkeratosis, Brittle hair, Pruritus, Sparse eyebrow, Sparse hair, Sparse eyelashes,... OMIM:607903
Split-Hand/Foot Malformation 6
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot OMIM:225300
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Frontal encephalocele, Abnormality of the hand, Abnormality of the upper limb, Clin... ORPHA:521308
Erythrokeratodermia Variabilis Et Progressiva 4
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Oligodactyly, Occipital encephalocele, Humeroradial synostosis OMIM:614416
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Split foot, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Abnormal met... ORPHA:1307
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal shoulder morphology, Mesomelia, Micrognathia ORPHA:1277
Stuve-Wiedemann Syndrome 2
Camptodactyly, Pulmonary arterial hypertension, Death in adolescence, Neonatal death, Respiratory... OMIM:619751
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Nail dystrophy, Hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Metaphyseal Acroscyphodysplasia
Telecanthus, Epicanthus, Abnormal metaphysis morphology, Genu varum, Abnormal diaphysis morpholog... ORPHA:1240
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Mesomelic leg shortening,... ORPHA:93322
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratotic hyperkeratosis OMIM:615024
Wind-swept deformity of the knees, Irregular epiphyses, Irregular acetabular roof, Metaphyseal ir... ORPHA:750
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Telecanthus, Limb undergrowth, Postaxial po... OMIM:617102
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Odontochondrodysplasia 1
Genu varum, Metaphyseal cupping, Small epiphyses, Metaphyseal widening, Flat acetabular roof, Sho... OMIM:184260
Acromegaloid Facial Appearance Syndrome
Synophrys, Tapered finger, Highly arched eyebrow, Short 5th metacarpal, Micrognathia, Large hands... OMIM:102150
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening... ORPHA:2632
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Bilateral coxa valga, Genu varum, Limb undergrowth, Abnormality of the epiphyses of the elbow, Ab... ORPHA:166002
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Retrognathia, Mandibular aplasia, Respiratory distress, Respiratory failure, Micrognathia ORPHA:1832
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Split hand, Absent hand, Finger syndactyly ORPHA:2440
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Malar flattening, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micr... OMIM:118651
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Olmsted Syndrome 2
Alopecia universalis, Parakeratosis, Perioral hyperkeratosis, Pruritus, Woolly hair, Palmoplantar... OMIM:619208
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Epicanthus, Overlapping toe, Upslanted palpebral fissure, Short palpebral fissure, Slender finger... OMIM:617755
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis, Micrognathia OMIM:300580
Osebold-Remondini Syndrome
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Short tibia, Broad toe... OMIM:112910
Metaphyseal Anadysplasia 2
Genu varum, Metaphyseal widening, Micromelia, Short femoral neck, Metaphyseal irregularity, Bowin... OMIM:613073
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Heart-Hand Syndrome Type 2
Abnormality of the humerus, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 4th me... ORPHA:1350
Mesomelia-Synostoses Syndrome
Abnormality of the humerus, Abnormal eyebrow morphology, Metatarsal synostosis, Abnormality of th... ORPHA:2496
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short phalanx of finger, Short tibia, Shor... OMIM:200700
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Camptodactyly of finger, Synostosis of carpal bones, Mesomelia, Ulnar deviated... ORPHA:2741
Bardet-Biedl Syndrome 16
Respiratory distress, External genital hypoplasia, Hypogonadism OMIM:615993
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema, Pedal edema OMIM:615907
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Retrognathia, Abnormal metaphysis morphology, Abnormal hip bone morpholo... ORPHA:2631
Terminal Osseous Dysplasia
Camptodactyly of finger, Camptodactyly of toe, Epicanthus, Malar flattening, Syndactyly, Upslante... OMIM:300244
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Delayed puberty, Testicular... ORPHA:52901
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Brittle hair, Tiger tail banding OMIM:618546
Vohwinkel Syndrome, Variant Form
Parakeratosis, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis OMIM:604117
Hypertrichosis Cubiti
Abnormal eyelash morphology, Abnormal nasolacrimal system morphology, Rhizomelia, Abnormality of ... ORPHA:2220
Moebius Syndrome
Congenital fibrosis of extraocular muscles, Camptodactyly, Epicanthus, Hand clenching, Syndactyly... OMIM:157900
Postaxial Oligodactyly, Tetramelic
Postaxial oligodactyly, Single transverse palmar crease, Postaxial foot polydactyly, Absent fifth... OMIM:176240
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Micromelia, Humeroradial synostosis, ... ORPHA:2019
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Neonatal respiratory distress, Limb undergrowth, Metaphyseal widening, Short ... OMIM:618961
Ichthyosis, Hystrix-Like, With Deafness
Cobblestone-like hyperkeratosis, Absent eyelashes, Sparse eyebrow, Palmoplantar keratoderma, Scar... OMIM:602540
Olmsted Syndrome, X-Linked
Parakeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, H... OMIM:300918
Bartsocas-Papas Syndrome 1
Oligodactyly, Short thumb, Ablepharon, Upslanted palpebral fissure, Absent eyelashes, Popliteal p... OMIM:263650
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Cough, Chronic lung disease, Respiratory distres... ORPHA:70589
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Oligodactyly, Retrognathia, Umbilical hernia, Upslanted palpebral fissure, Short foot, Ptosis, Cl... OMIM:619758
Abnormal metaphysis morphology, Genu varum, Abnormality of the elbow, Micromelia, Brachydactyly, ... ORPHA:429
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Death in infancy, Micro... ORPHA:2098
Congenital Disorder Of Glycosylation, Type Iy
Clinodactyly, Respiratory distress, Micrognathia OMIM:300934
Tetramelic Monodactyly
Hand monodactyly, Foot monodactyly, Split hand, Split foot OMIM:187510
Classic Mycosis Fungoides
Edema, Skin rash, Alopecia, Pruritus, Lymphadenopathy, Eczema, Hyperkeratosis, Splenomegaly ORPHA:2584
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... ORPHA:2639
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia ORPHA:2574
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Limb undergrowth, Metaphyseal cupping, Short ribs, Rhizomelia, Flat acetabular ... OMIM:151210
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Death in childhood, Hip dysplasia, Limb undergrowth, Death in infancy, Shortening of all distal p... OMIM:616809
Severe Acute Respiratory Syndrome
Dyspnea, Diabetes mellitus, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia,... ORPHA:140896
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Alopecia totalis, Nail dystrophy OMIM:212360
Microphthalmia With Limb Anomalies
Hip dislocation, Metatarsal synostosis, Short palpebral fissure, Toe syndactyly, Single transvers... OMIM:206920
Distal Deletion 17Q
Deviation of finger, Respiratory insufficiency, Abnormal hip bone morphology, Aplasia/Hypoplasia ... ORPHA:1597
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Apl... ORPHA:93430
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Madelung deformi... ORPHA:240
Atelosteogenesis Type Ii
Epicanthus, Increased femoral anteversion, Rhizomelia, Micromelia, Hypoplastic cervical vertebrae... ORPHA:56304
Laryngotracheal Angioma
Intercostal retractions, Cough, Apnea, Respiratory distress, Stridor, Wheezing ORPHA:137935
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Acquired Ichthyosis
Pruritus, Recurrent skin infections, Hyperkeratosis, Palmoplantar keratoderma ORPHA:454
Kniest Dysplasia
Tracheomalacia, Hip dislocation, Dumbbell-shaped femur, Genu varum, Abnormal cartilage collagen, ... OMIM:156550
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Weyers Ulnar Ray/Oligodactyly Syndrome
Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, Mesomelia, Micr... OMIM:602418
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Hip dysplasia, Limb undergrowth, Capitate-hamate fusion, Short metacarpa... OMIM:614078
Neurogenic Arthrogryposis Multiplex Congenita
Hip dislocation, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Respirator... ORPHA:1143
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca... OMIM:127300
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Ap... OMIM:254210
Brachydactyly, Short long bone, Epicanthus, Limb undergrowth ORPHA:221054
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Abnormal eyelash morphology, Abnormality of the axillary hair, Abnormal eyebro... ORPHA:90368
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Mesomelic Dysplasia, Savarirayan Type
Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl... ORPHA:85170
Myotubular Myopathy With Abnormal Genital Development
Micropenis, Ambiguous genitalia, male, Death in infancy, Neonatal death, Respiratory distress, Bi... OMIM:300219
Chondrodysplasia, Blomstrand Type
Malar flattening, Short ribs, Advanced ossification of carpal bones, Micromelia, Stillbirth, Flar... OMIM:215045
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Acromesomelic Dysplasia 2C
Single transverse palmar crease, Hip dislocation, Distal femoral bowing, Short thumb, Radial bowi... OMIM:201250
Faciocardiomelic Dysplasia, Lethal
Single transverse palmar crease, Retrognathia, Short thumb, Hypoplasia of the radius, Radial devi... OMIM:227270
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Temporomandibular joint ankylosis, Coxa valga, Mesomelia, Ulnar deviated club ... OMIM:164900
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Synophrys, Short metatarsal, Short metacarpal, Thick eyebrow, Broad thumb, Micr... ORPHA:1278
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Abnormality of fibula morphology, Bilateral single transverse palmar cre... ORPHA:2633
Psoriasis 2
Parakeratosis, Hyperkeratosis, Psoriasiform dermatitis OMIM:602723
Langer Mesomelic Dysplasia
Broad ulna, Radial bowing, Short tibia, Mesomelia, Short femoral neck, Madelung deformity, Hypopl... OMIM:249700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Ap... OMIM:605809
Perching Syndrome
Respiratory distress, Camptodactyly OMIM:617055
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy OMIM:175900
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Cryptorchidism, Micropenis, Respiratory distress, Small scrotum OMIM:615597
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Retrognathia, Epicanthus, Upslanted palpebral fissure, Short palpebral fissure, Respirat... ORPHA:2707
Bazex Syndrome
Edema, Parakeratosis, Yellow nails, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Hyperkera... ORPHA:166113
Orofaciodigital Syndrome X
Telecanthus, Retrognathia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyl... OMIM:165590
Pentasomy X
Camptodactyly of finger, Hip dysplasia, Upslanted palpebral fissure, Radioulnar synostosis, Small... ORPHA:11
Thanatophoric Dysplasia, Type Ii
Hypoplastic ilia, Short greater sciatic notch, Respiratory insufficiency, Short ribs, Neonatal de... OMIM:187601
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Epicanthus, Missing ribs, Downslanted palpebral fissures, Respiratory distress, Long pal... ORPHA:2759
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Abnormal metaphysis morphology, Limb undergrowth, Rhizomelia, Abnormal epiphysis morp... ORPHA:177
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Upslanted palpebra... ORPHA:166016
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Succinic Acidemia
Respiratory distress OMIM:600335
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Tracheomalacia, Proximal placement of thumb, Wide anterior fontane... OMIM:217980
Jeune Syndrome
Postaxial foot polydactyly, Abnormal metaphysis morphology, Respiratory insufficiency, Micromelia... ORPHA:474
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis, Pruritus, Atopic dermatitis OMIM:618084
Congenital Disorder Of Glycosylation, Type Ie
Camptodactyly, Downslanted palpebral fissures, Micrognathia, Respiratory distress, Short palm, Sm... OMIM:608799
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Toe syndactyly, Micrognathia, Split hand, Split foot OMIM:183700
Rhizomelic Syndrome
Hip dislocation, Rhizomelia, Wide anterior fontanel, Complete duplication of thumb phalanx, Bifid... OMIM:268250
Pallister-Hall Syndrome
Oligodactyly, Postaxial foot polydactyly, Hip dislocation, Y-shaped metacarpals, Mesoaxial foot p... OMIM:146510
Thoracomelic Dysplasia
Abnormality of fibula morphology, Abnormal metaphysis morphology, Limb undergrowth, Short ribs, D... ORPHA:1803
Olmsted Syndrome 1
Periorificial hyperkeratosis, Hyperparakeratosis, Alopecia universalis, Parakeratosis, Pruritus, ... OMIM:614594
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Micromelia, Sh... ORPHA:440354
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory insufficiency, Respiratory d... OMIM:614399
Ulna Hypoplasia-Intellectual Disability Syndrome
Ulnar deviation of finger, Mesomelia, Micromelia, Broad thumb, Metatarsus adductus, Hypoplasia of... ORPHA:2249
Rubinstein-Taybi Syndrome 2
Epicanthus, Retrognathia, Long eyelashes, Downslanted palpebral fissures, Talon cusp, Syndactyly,... OMIM:613684
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Micromelia, Hypoplasia of the radius, Mandibular prognathia, Nonopposable triphalangeal thumb ORPHA:2252
Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair, Perifollicular ... OMIM:158000
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Palmoplant... OMIM:148700
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Brittle hair, Alopecia, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Porokeratosis 1, Multiple Types
Parakeratosis OMIM:175800
Abnormal iliac wing morphology, Hip joint hypermobility, Limited elbow extension, Central sleep a... ORPHA:15
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy OMIM:607936
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Chronic rhinitis, Respiratory distress, Bronchiectasis, Abnormal resp... ORPHA:922
Pruritus, Hyperkeratosis ORPHA:79358
Boomerang Dysplasia
Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal morphol... ORPHA:1263
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Respiratory insufficiency, Upper airway obstruction, Respirat... ORPHA:60032
Mesomelic Dysplasia, Kantaputra Type
Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibula morphology, Ulnar devi... ORPHA:1836
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Tachypnea OMIM:267450
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Orthokeratosis, Leukonychia, Hyperkeratosis OMIM:617525
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Postaxial polydactyly, Short ribs, Syndactyly, Micromelia, Respiratory distress... OMIM:617895
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... OMIM:246570
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split hand, Split foot OMIM:183800
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Short metacarpal, Patellar hypoplasia, Mesomelia, Clino... OMIM:617604
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Missing ribs, Flat acetabular roof, Micromelia, Micrognathia, Lar... ORPHA:1801
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Woolly hair, Leukonychia, Palmoplantar keratoderma, Nail dystrophy, Hype... OMIM:615821
Achondrogenesis, Type Ib
Hypoplastic ilia, Malar flattening, Short ribs, Respiratory insufficiency, Umbilical hernia, Micr... OMIM:600972
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Multinucleated giant chondrocytes in epiphyseal cartilage... OMIM:108720
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, H... ORPHA:2634
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Respiratory distress, Missing ribs, Narrow pelvis bone, Myelomeningocele ORPHA:66637
Radio-Renal Syndrome
Dyspnea, Retrognathia, Pleural effusion, Abnormality of the elbow, Micromelia, Respiratory distre... ORPHA:3015
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Short metatarsal, Short metacarpal, Synostosis of carpal bones, A... ORPHA:93351
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Aspiration pneumonia, Polydactyly, Downslanted palpebral fissures, Hypoventilation, Apnea, Respir... ORPHA:314655
Limited elbow extension, Genu varum, Malar flattening, Short ribs, Rhizomelia, Death in infancy, ... OMIM:100800
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Rhizomelia, Mesomelia, Abnormal morphology of the radius, Microme... ORPHA:93329
Acromesomelic Dysplasia 3
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... OMIM:609441
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Thyroid Lymphoma
Goiter, Dyspnea, Hashimoto thyroiditis, Hyperthyroidism, Respiratory distress, Upper airway obstr... ORPHA:97285
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Retrognathia, Short thumb, Joint contracture of the 5th finger... OMIM:194350
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... ORPHA:264675
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Respiratory distress, Pleural effusion ORPHA:50251
Diastrophic Dysplasia
Short finger, Elbow dislocation, Camptodactyly of finger, Ulnar deviation of finger, Hip dysplasi... ORPHA:628
Cryptogenic Organizing Pneumonia
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... ORPHA:1302
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy OMIM:167200
Pityriasis Rubra Pilaris
Parakeratosis, Orthokeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis OMIM:173200
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short phalanx of finger, Short metacarpal, Downslanted... OMIM:180870
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Flared iliac wing, Short palm, Abnormal... ORPHA:63446
Osteoglophonic Dysplasia
Camptodactyly of finger, Short thumb, Rhizomelia, Short metatarsal, Shallow orbits, Broad thumb, ... OMIM:166250
Ciliary Dyskinesia, Primary, 2
Infertility, Sinusitis, Respiratory distress, Bronchiectasis, Immotile cilia, Ciliary dyskinesia,... OMIM:606763
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Limited elbow extension, Metaphyseal widening, Flat acetabular roof, Dysplasti... OMIM:608728
Meige Disease
Edema of the dorsum of hands, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infection... ORPHA:90186
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... ORPHA:1303
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma ORPHA:312
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Miscarriage, Hypoplastic ilia, Limb undergrowth, Respiratory insufficiency, Short ... ORPHA:1865
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... ORPHA:91359
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Limb undergrowth, Wide anterior fontanel, Mesomelia, Shortening of... OMIM:601356
Schneckenbecken Dysplasia
Bilateral talipes equinovarus, Limb undergrowth, Malar flattening, Short ribs, Flat acetabular ro... OMIM:269250
Bone Dysplasia, Lethal Holmgren Type
Abnormal diaphysis morphology, Respiratory insufficiency, Short ribs, Rhizomelia, Abnormality of ... ORPHA:1842
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Honeycomb palmoplantar hyperkeratosis, Alopecia, Palmoplantar keratoderma, Nail dy... ORPHA:79395
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Gaucher Disease Type 2
Cough, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Flat acetabular roof, Delayed ossification of carpal bones, Broad t... OMIM:609616
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Malar flattening, Finger syndactyly, Abnormal pelvic girdle bone morphology, Mic... ORPHA:1788
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy, Micrognathia OMIM:615042
Microphthalmia With Limb Anomalies
Hip dislocation, Abnormal eyebrow morphology, Short tibia, Abnormality of the upper limb, Toe syn... ORPHA:1106
Mandibulofacial Dysostosis, Guion-Almeida Type
Epicanthus, Proximal placement of thumb, Malar flattening, Downslanted palpebral fissures, Upslan... OMIM:610536
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Short palm, Coxa vara ORPHA:168555
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Pruritus, Sparse eyebrow, Sparse hai... OMIM:602400
Acromesomelic Dysplasia 4
Prominent deltoid tuberosities, Rhizomelia, Short metatarsal, Thick eyebrow, Broad finger, Short ... OMIM:619636
Respiratory distress, Cryptorchidism, Small scrotum, Micropenis ORPHA:370924
Osteogenesis Imperfecta, Type X
Death in childhood, Malar flattening, Bowing of the long bones, Rhizomelia, Chronic lung disease,... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Bowing of the legs, Limb undergrowth ORPHA:156728
Schwartz-Jampel Syndrome, Type 1
Anterior bowing of long bones, Micromelia, Shoulder flexion contracture, Blepharophimosis, Bowing... OMIM:255800
Dyssegmental Dysplasia, Silverman-Handmaker Type
Malar flattening, Respiratory insufficiency, Occipital encephalocele, Neonatal death, Micromelia,... OMIM:224410
Ulnar Hypoplasia
Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ... OMIM:191440
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Micromelia, Postaxial hand pol... ORPHA:2491
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... ORPHA:411703
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Oligodactyly, Ectrodactyly ORPHA:3016
Acromesomelic Dysplasia, Hunter-Thompson Type
Hip dislocation, Bilateral single transverse palmar creases, Short thumb, Short metacarpal, Abnor... ORPHA:968
C Syndrome
Postaxial foot polydactyly, Epicanthus, Hip dislocation, Ulnar deviation of finger, Limb undergro... OMIM:211750
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Epicanthus, Abnormal morphology of ulna, Short metatarsal, Mandibular prognathia, Short metacarpa... ORPHA:950
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Malar flattening, Metaphyseal widening, Rhizomelia, Mandibular prognathia, Mesomeli... OMIM:612813
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Neonatal respiratory distress, Finger joint hypermobility, Flat acetabul... OMIM:618870
Nager Syndrome
Phocomelia, Respiratory insufficiency, Sparse lower eyelashes, Downslanted palpebral fissures, Ap... ORPHA:245
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Axillary pterygium, Absent distal phalanges, 2-5 finger cutaneous syndact... OMIM:619339
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Bilateral ptosis, Respiratory insufficiency, Respir... ORPHA:254875
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Verloove Vanhorick-Brubakk Syndrome
Limb undergrowth, Finger syndactyly, Abnormal metacarpal morphology, Micrognathia, Abnormality of... ORPHA:3429
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Edema, Acantholysis ORPHA:455
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Micromelia, Brachydactyly, Abnormal pelvic gi... ORPHA:2928
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Laron Syndrome
Short long bone, Limb undergrowth OMIM:262500
Baller-Gerold Syndrome
Oligodactyly, Epicanthus, Aplasia of metacarpal bones, Aphalangy of the hands, Carpal synostosis,... OMIM:218600
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis ORPHA:254478
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Camptodactyly, Malar flattening, Short ribs, Metaphyseal widening, Advanced ossifi... OMIM:224400
Interstitial Pneumonitis, Desquamative, Familial
Cough, Respiratory distress, Respiratory failure, Tachypnea OMIM:263000
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Hip dislocation, Short ribs, Occipital encephalocele, Death in infanc... OMIM:241800
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Elbow dislocation, Absent radius, Genu varum, Phocome... OMIM:171480
Cole Disease
Punctate palmoplantar hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Mesomelia-Synostoses Syndrome
Telecanthus, Short umbilical cord, Distal femoral bowing, Ulnar deviation of the hand, Short meta... OMIM:600383
Multiple Epiphyseal Dysplasia Type 4
Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Rhizomelia, Short metatar... ORPHA:93307
Acrokeratosis Verruciformis Of Hopf
Punctate palmoplantar hyperkeratosis, Nail dystrophy, Parakeratosis, Leukonychia, Acantholysis, H... ORPHA:79151
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Epicanthus, Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydac... OMIM:609945
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Neonatal respiratory distress, Short ribs, Flat acetabular roof, ... ORPHA:168549
Nasolacrimal Duct Cyst
Intercostal retractions, Narrow palpebral fissure, Abnormal lacrimal sac morphology, Abnormal bre... ORPHA:141083
Greenberg Dysplasia
Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly ORPHA:1426
Atelosteogenesis, Type Iii
Elbow dislocation, Tombstone-shaped proximal phalanges, Widened distal phalanges, Malar flattenin... OMIM:108721
Tetrasomy 5P
Pulmonary arterial hypertension, Epicanthus, Overlapping toe, Wide anterior fontanel, Upslanted p... ORPHA:3309
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Pulmonary arterial hypertension, Metaphyseal cupping, Short ribs, Flat acetab... OMIM:613320
Congenital Insensitivity To Pain With Severe Intellectual Disability
Limb undergrowth, Rocker bottom foot, Short palpebral fissure, Micrognathia, Congenital bilateral... ORPHA:453510
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Single transverse palmar crease, Epicanthus, Preaxial polydactyly, Postaxial polydactyly, Short r... OMIM:617866
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis OMIM:613943
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Dyspnea, Clubbing, Cough, Paraseptal emphysema, Hypoxemia, Death i... OMIM:610921
Meckel Syndrome, Type 9
Occipital encephalocele, Talipes equinovarus, Limb undergrowth OMIM:614209
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Abnormality of the humerus, Short thumb, Phocomelia, Abnormal finger m... ORPHA:2538
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Neonatal death OMIM:273680
Limb-Mammary Syndrome
Oligodactyly, Malar flattening, Lacrimal duct atresia, Absent lacrimal punctum, Syndactyly, Bleph... ORPHA:69085
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Downslanted palpebral fissures, Micromelia, Arachnodactyly, Sandal gap, Genu va... ORPHA:1035
Microlissencephaly-Micromelia Syndrome
Micromelia, Respiratory distress, Palpebral edema, Adducted thumb, 11 pairs of ribs, Bilateral si... ORPHA:50810
Restrictive Dermopathy 2
Short clavicles, Respiratory distress, Microretrognathia, Hypoplastic facial bones, Overtubulated... OMIM:619793
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, Adducted thumb, Rocker bottom foot ORPHA:89844
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Diabetes mellitus, Cough, Hypoxemia, Nonproductive cough, Increased circulati... ORPHA:36238
Meier-Gorlin Syndrome 1
Short palpebral fissure, Aplasia/Hypoplasia of the patella, Cutaneous finger syndactyly, Blepharo... OMIM:224690
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of limb bone morphology, Limb undergrowth ORPHA:2204
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Absent... OMIM:119100
Anaplastic Thyroid Carcinoma
Goiter, Dyspnea, Anaplastic thyroid carcinoma, Nodular goiter, Cough, Upper airway obstruction, R... ORPHA:142
Cousin Syndrome
Rhizomelia, Short palpebral fissure, Fibular aplasia, Blepharophimosis, Joint contracture of the ... OMIM:260660
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Epicanthus, Short ribs, Rhizomelia, Short tibia, Short femur, Respiratory distress... OMIM:607143
Nievergelt Syndrome
Metatarsal synostosis, Mesomelia, Radioulnar synostosis, Talipes equinovarus, Tarsal synostosis, ... OMIM:163400
Auriculocondylar Syndrome
Snoring, Abnormality of the crus of the helix, Abnormality of the temporomandibular joint, Respir... ORPHA:137888
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormality of the humerus, Abnormal eyelash morphology, Upslanted palpe... ORPHA:1794
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Retrognathia, Limb undergrowth, Coxa valga, Short palpebral fiss... OMIM:608149
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Rhizomelia, Wide anterior fontanel, Mes... OMIM:616482
Ichthyosis, Congenital, Autosomal Recessive 4B
Short finger, Ectropion, Death in infancy, Neonatal death OMIM:242500
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Chromosome 6Q24-Q25 Deletion Syndrome
Hooded eyelid, Upslanted palpebral fissure, Short palpebral fissure, Respiratory distress, Promin... OMIM:612863
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Epicanthus OMIM:614741
Thanatophoric Dysplasia
Hip dysplasia, Abnormal metaphysis morphology, Respiratory insufficiency, Downslanted palpebral f... ORPHA:2655
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Aplasia/Hypoplasia of the eyebrow, Micrognathia ORPHA:261304
Campomelic Dysplasia
Shortening of all phalanges of the toes, Hip dislocation, Epicanthus, Short palpebral fissure, Sh... OMIM:114290
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Genu varum, Malar flattening, Metaphyseal cupping, Hypoplastic sc... ORPHA:85166
Ollier Disease
Micromelia, Abnormal cartilage morphology, Abnormal metaphysis morphology, Multiple enchondromatosis ORPHA:296
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Orthokeratosis, Palmoplantar keratoderma, Erythroderma OMIM:604777
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Telecanthus, Epicanthus, Limb undergrowth, Umbilical hernia, Spontaneous neonatal pneumothorax, W... OMIM:225410
Ruvalcaba Syndrome
Proximal placement of thumb, Downslanted palpebral fissures, Abnormality of the elbow, Short meta... ORPHA:3121
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Lymphedema, Hyperkeratosis OMIM:620014
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Neonatal death OMIM:276822
Lichen Planopilaris
Pruritus, Hyperkeratosis, Alopecia ORPHA:525
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Palmoplantar keratoderma, Orthokeratosis, Erythroderma, Hyperkeratosis OMIM:612281
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Short humerus, Neonatal respiratory distress, Hip dislocation, Malar flattening, Rhizomelia, Disl... OMIM:602471
Pfeiffer Syndrome Type 2
Tracheomalacia, Malar flattening, Hallux varus, Finger syndactyly, Respiratory distress, Toe synd... ORPHA:93259
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Spondyloepimetaphyseal Dysplasia, Shohat Type
Central vertebral hypoplasia, Limb undergrowth, Genu varum, Short ribs, Micromelia, Short femoral... OMIM:602557
Diamond-Blackfan Anemia 11
Unilateral radial aplasia, Eyelid coloboma, Forearm reduction defects, Radioulnar synostosis, Hyp... OMIM:614900
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Short tibia, Mesomelic leg shortening,... OMIM:268305
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Respiratory insuff... ORPHA:1860
Cornelia De Lange Syndrome
Oligodactyly, Hip dislocation, Hip dysplasia, Proximal placement of thumb, Thick eyebrow, Microme... ORPHA:199
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Preaxial foot polydactyly, Mesomelic... ORPHA:2751
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Camptodactyly of finger, Eyelid coloboma, Downslanted palpebral f... ORPHA:1784
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Wheezing, Restrictive ventilatory defect, Cough, Hypoxemia, Compen... OMIM:610978
Hall-Riggs Syndrome
Epicanthus, Abnormal metaphysis morphology, Limb undergrowth, Abnormal epiphysis morphology, Dela... ORPHA:2107
Craniosynostosis, Herrmann-Opitz Type
Malar flattening, Finger syndactyly, Micromelia, Micrognathia, Split hand, Brachydactyly ORPHA:2145
Cleidocranial Dysplasia 1
Hip dislocation, Supernumerary tooth, Cone-shaped epiphyses of the phalanges of the hand, Coxa va... OMIM:119600
Pelviscapular Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Abnormality of the joint spaces of the elbow, Hypop... ORPHA:93333
Otospondylomegaepiphyseal Dysplasia
Abnormal iliac wing morphology, Abnormal long bone morphology, Dumbbell-shaped femur, Limb underg... ORPHA:1427
Poland Syndrome
Short ribs, Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid ... OMIM:173800
Meconium Aspiration Syndrome
Maternal diabetes, Pulmonary arterial hypertension, Aspiration pneumonia, Hypoxemia, Respiratory ... ORPHA:70588
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis OMIM:613561
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Erythroderma, Hyperkeratosis OMIM:615023
Surfactant Metabolism Dysfunction, Pulmonary, 2
Pulmonary arterial hypertension, Dyspnea, Clubbing, Decreased DLCO, Respiratory insufficiency, Co... OMIM:610913
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Short ribs, Respiratory distress, Hip contracture, Interphalangeal joi... ORPHA:1145
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Short femur, Hypoplasia of... OMIM:147891
Respiratory distress ORPHA:673
Atelosteogenesis Type I
Abnormality of fibula morphology, Limb undergrowth, Rhizomelia, Abnormal ossification involving t... ORPHA:1190
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Metatropic Dysplasia
Camptodactyly of finger, Abnormal metaphysis morphology, Micromelia, Coarse metaphyseal trabecula... ORPHA:2635
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Decreased fibular diameter, Limb undergrowth, Short ribs, Short femur, Adducted... OMIM:616897
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Abnormal respiratory system physiology, Rhizomelia, Mandibular prognathia, Mesomelia, Broad thumb... ORPHA:171866
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Epicanthus, Proximal placement... ORPHA:435638
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Abnormal epiphysis morphology ORPHA:93283
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Epicanthus, Downslanted palpebral fissures, Respiratory distress, Sparse eyebrow, Micrognathia OMIM:606164
Achondrogenesis Type 2
Hypoplastic ilia, Short ribs, Cardiorespiratory arrest, Micromelia, Delayed proximal femoral epip... ORPHA:93296
4Q21 Microdeletion Syndrome
Long eyelashes, Synophrys, Micromelia, Toe syndactyly, Short palm, Small hand, Short foot, Ptosis ORPHA:238750
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Malar flattening, Eyelid coloboma, Downslanted palpebral fissures, Finge... ORPHA:246
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplasia of the calcaneus, Metaphyseal cupping, Rhizomelia, Distal shortening of limbs, Metaphy... OMIM:300863
Cenani-Lenz Syndactyly Syndrome
Malar flattening, Downslanted palpebral fissures, Syndactyly, Enamel hypoplasia, Radioulnar synos... OMIM:212780
Phocomelia, Schinzel Type
Aplasia of the ulna, Foot oligodactyly, Aplasia/Hypoplasia involving the pelvis, Radial bowing, B... ORPHA:2879
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Epicanthus, Polydactyly, Postaxial polydactyly, Short ribs, Flat ... OMIM:614091
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus ORPHA:2596
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Epicanthus, Meningocele, Mandibular prognathia, Finger syndacty... ORPHA:1908
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Mesoaxial polydactyly, Toe syndactyly, Broad thumb, Radial bowing,... ORPHA:672
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Cough, Respiratory distress, Pleu... ORPHA:2414
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Epicanthus, Short ribs, Respiratory distress, Postaxial hand pol... ORPHA:2519
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Patent ductus arteriosus, Neonatal death OMIM:601612
Coxoauricular Syndrome
Micromelia, Abnormality of femur morphology, Hip dislocation, Abnormal pelvic girdle bone morphology ORPHA:1508
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Tarsal synostosis, Mesomelia, Radial bowing OMIM:156232
Multiple Osteochondromas
Femoroacetabular impingement, Cervical myelopathy, Deformed forearm bones, Pneumothorax, Abnormal... ORPHA:321
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Pulmonary arterial hypertension, Bilateral ptosis, Limited wrist e... ORPHA:98915
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Maternal diabetes, Tachypnea ORPHA:45452
Avian Influenza
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respira... ORPHA:454836
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Pruritus, Leukonychia, Acantholy... OMIM:616295
Milroy Disease
Erysipelas, Lymphedema, Hyperkeratosis, Predominantly lower limb lymphedema, Pedal edema ORPHA:79452
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Clubbing, Limb undergrowth, Mandibular prognathia, Clinodactyly of th... OMIM:619143
Mednik Syndrome
Hyperkeratosis ORPHA:171851
Tukel Syndrome
Postaxial oligodactyly, Congenital fibrosis of extraocular muscles, Carpal bone aplasia, Syndacty... OMIM:609428
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Camptodactyly, Neonatal death, Micromelia, Apnea OMIM:610015
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Downslanted palpebral fissures, Death in infancy, Shortening of all dista... OMIM:619135
Agnathia-Otocephaly Complex
Tracheomalacia, Downslanted palpebral fissures, Mandibular aplasia, Respiratory distress, Microgn... OMIM:202650
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Short tibia, Micromelia, Respiratory failure, Cone-sh... ORPHA:1505
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction, Micrognathia OMIM:612776
Tracheomalacia, Epicanthus, Respiratory insufficiency, Missing ribs, Micrognathia, Respiratory di... OMIM:608022
Achondrogenesis Type 1B
Umbilical hernia, Micrognathia, Micromelia, Talipes equinovarus, Short foot ORPHA:93298
Achondrogenesis Type 1A
Umbilical hernia, Micromelia, Short palm, Micrognathia, Short foot ORPHA:93299
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Downslanted palpebral fissures, Shallow orbits, Apnea, Micrognathia, Arachnodactyly ORPHA:1129
Acrofacial Dysostosis 1, Nager Type
Absent lower eyelashes, Hip dislocation, Toe syndactyly, Short toe, Radial deviation of finger, H... OMIM:154400
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Dyspnea, Respiratory insufficiency, Respiratory distress, Nocturnal hypoventi... OMIM:211530
Cardiomyopathy, Dilated, 2H
Cardiorespiratory arrest, Neonatal death, Tachypnea OMIM:620203
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Acute Lung Injury
Dyspnea, Hypoxemia, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea ORPHA:178320
Short finger, Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Persistence of ... ORPHA:763
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Radial bowing, Flat acetabular roof, Short metacarpal, Ul... OMIM:211350
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormal metaphysis morphology, Respiratory failure, Limb undergrowth ORPHA:1861
Greenberg Dysplasia
Metaphyseal cupping, Rhizomelia, Micromelia, Absent distal phalanges, Diaphyseal thickening, Epip... OMIM:215140
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Broad thumb, R... OMIM:268310
3M Syndrome
Hypoplastic pelvis, Congenital hip dislocation, Abnormal metaphysis morphology, Abnormality of th... ORPHA:2616
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Epicanthus, Clubbing, Long eyelashes, Metaphyseal widening, Synophrys, Respir... OMIM:617303
Image Syndrome
Micromelia, Metaphyseal dysplasia ORPHA:85173
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Hip dislocation, Delayed calcaneal ossification, Malar flattening, Flattened... OMIM:183900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Epicanthus, Overlapping toe, Thick eyebrow, Upslanted palpebral fissure, Respiratory distress, Te... OMIM:619383
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Fibular aplasia OMIM:605274
Spondyloepimetaphyseal Dysplasia, Shohat Type
Central vertebral hypoplasia, Limb undergrowth, Metaphyseal widening, Genu varum, Abnormal epiphy... ORPHA:93352
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Respirato... ORPHA:2021
Hemochromatosis, Type 1
Testicular atrophy, Pleural effusion, Diabetes mellitus, Azoospermia, Impotence, Amenorrhea, Hypo... OMIM:235200
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Hallux valgus, Brachydactyly OMIM:617180
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Epicanthus, Postaxial polydactyly, Short tibia, Toe syndactyly, M... OMIM:258860
Short-Rib Thoracic Dysplasia 12
Short finger, Epicanthus, Limb undergrowth, Respiratory insufficiency, Short ribs, Hypoplastic sc... OMIM:269860
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea OMIM:614299
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Long eyelashes, Mesomelia, Broad thumb, Prominent fingertip pads, Broad hallux, Mi... OMIM:618529
Irida Syndrome
Hyperkeratosis ORPHA:209981
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Hypoplasia of the maxilla, Limb undergrowth OMIM:619142
Choanal Atresia
Tracheomalacia, Chronic sinusitis, Polydactyly, Respiratory distress, Upper airway obstruction, A... ORPHA:137914
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Chondrodysplasia-Difference Of Sex Development Syndrome
Telecanthus, Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Blepha... ORPHA:1422
Geleophysic Dysplasia 3
Dyspnea, Limb undergrowth, Sleep apnea, Respiratory failure, Limited elbow movement, Pneumonia, L... OMIM:617809
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Upper eyelid coloboma, Downslanted palpebral fissures, Ablepharon, Flared lower lim... OMIM:616462
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Camptodactyly, Limb undergrowth, Metaphyseal cupping, Rhizomelia, Short ... OMIM:618019
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress, Talipes equinovarus OMIM:620011
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormal metaphysis morphology, Respiratory insufficiency, Micromelia, Patent duct... ORPHA:93274
Acromesomelic Dysplasia 1
Broad metatarsal, Limited elbow extension, Broad phalanx, Short metatarsal, Short metacarpal, Bro... OMIM:602875
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of fibula morphology, Upslanted palpebral fissure, Lower limb undergrowth, Micrognath... ORPHA:3035
Pfeiffer Syndrome Type 3
Tracheomalacia, Hallux varus, Finger syndactyly, Respiratory distress, Toe syndactyly, Broad thum... ORPHA:93260
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Respiratory distress ORPHA:240103
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Abnormal calcification of the carpal bones, Broad long bones, Micromelia, Flared iliac wing, Epip... OMIM:271665
Osteogenesis Imperfecta, Type Ii
Limb undergrowth, Respiratory insufficiency, Broad long bones, Crumpled long bones, Tibial bowing... OMIM:166210
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Telecanthus, Postaxial foot polydactyly, Mala... OMIM:252100
Hypophosphatasia, Infantile
Short lower limbs, Metaphyseal cupping, Short ribs, Death in infancy, Apnea, Micromelia, Stillbir... OMIM:241500
Sponastrime Dysplasia
Epicanthus, Hip dislocation, Rhizomelia, Metaphyseal irregularity, Flattened humeral epiphyses, S... ORPHA:93357
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Epicanthus, Postaxial polydactyly, Short ribs, Downslanted palpebral fissures, Short clavicles, R... OMIM:617088
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Finger joint hypermobility, Hip dysplasia, Metacarpophalangeal joint contracture, Tapered finger,... ORPHA:544503
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Congenital hip disloca... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Congenital hip disloca... ORPHA:98914
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Epicanthus, Syndactyly, Thick eyebrow, Micromelia, Broad hallux, Single transverse palmar crease,... OMIM:614800
Cough, Conjunctival hyperemia, Respiratory distress, Pneumonia, Pleural effusion, Conjunctivitis ORPHA:3392
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Camptodactyly, Umbilical hernia, Calvarial osteosclerosis, Mesome... OMIM:616331
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Arterial Tortuosity Syndrome
Dyspnea, Hip dislocation, Hip dysplasia, Malar flattening, Avascular necrosis of the capital femo... ORPHA:3342
Pachyonychia Congenita 3
Follicular hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma, Chapped lip, Nail dy... OMIM:615726
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Palpebral edema ORPHA:100057
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Developmental And Epileptic Encephalopathy 89
Death in childhood, Limb undergrowth, Downslanted palpebral fissures, Upslanted palpebral fissure... OMIM:619124
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Hip dysplasia, Carious teeth, Hallux valgus, Metaphyseal widening, Restr... ORPHA:536467
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Abnormal epiphysis morphology, Delayed epiphyseal ossification, Respiratory dis... ORPHA:226313
Oromandibular Dystonia
Respiratory distress, Abnormal mandible morphology, Abnormality of the temporomandibular joint, B... ORPHA:93958
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Narrow palpebral fissure, Retrognathia, Abnormal metaphysis morphology, Narrow pelvis bone, Downs... ORPHA:2637
Camptodactyly, Limb undergrowth, Downslanted palpebral fissures, Micrognathia, Long hallux, Sanda... ORPHA:79322
Rubinstein-Taybi Syndrome 1
Epicanthus, Short thumb, Polydactyly, Thick eyebrow, Broad thumb, Flared iliac wing, Highly arche... OMIM:180849
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epicanthus, Short tibia, Short palpebral fissure, Epiphyseal stippling, Interphalangeal joint con... ORPHA:96334
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dislocation, Hip dysplasia, Postaxial polydactyly, Tapered finger, Respiratory distress, Shor... OMIM:300968
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Oligodactyly, Camptodactyly of finger, Abnormal eyelash morphology, Abnormal nasolacrimal system ... ORPHA:2273
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Blepharophimosis, Joint contracture of the hand, Camptodactyly of to... OMIM:600920
Spondyloepimetaphyseal Dysplasia, Krakow Type
Ulnar deviation of the wrist, Rhizomelia, Mesomelia, Irregular epiphyses, Clinodactyly of the 5th... OMIM:618162
Prader-Willi Syndrome Due To Translocation
Retrognathia, Bilateral talipes equinovarus, Overlapping toe, Upslanted palpebral fissure, Clinod... ORPHA:177907
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Arachnodactyly, Congenital hip dislocation, Rocker bottom foot OMIM:271225
Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly, Ulnar deviation of ... OMIM:612651
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Syndactyly, Neonatal death, Natal tooth, Sandal gap, Tapere... OMIM:609638
Blomstrand Lethal Chondrodysplasia
Malar flattening, Short ribs, Rhizomelia, Metaphyseal cupping, Short metacarpal, Mesomelia, Abnor... ORPHA:50945
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Neonatal death, Respiratory distress, Hepatic periportal necrosis, Teleca... OMIM:231680
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Clubbing, Death in infan... OMIM:265120
Achondrogenesis, Type Ia
Short ribs, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Severe limb shortening,... OMIM:200600
Camptodactyly Syndrome, Guadalajara Type 3
Telecanthus, Retrognathia, Symblepharon, Thick eyebrow, Broad femoral neck, Thickened cortex of l... ORPHA:488434
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, Metaphyseal w... OMIM:260400
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Aplasia/Hypoplasia of metatarsal bon... OMIM:276820
Neu-Laxova Syndrome 1
Calcaneovalgus deformity, Ablepharon, Rocker bottom foot, Absent eyelashes, Micromelia, Toe synda... OMIM:256520
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Inspiratory stridor, Death in infancy, Irregular respiration OMIM:604377
Robinow Syndrome, Autosomal Dominant 1
Epicanthus, Rhizomelia, Upslanted palpebral fissure, Broad thumb, Brachydactyly, Bifid distal pha... OMIM:180700
Ear-Patella-Short Stature Syndrome
Patellar aplasia, Camptodactyly of finger, Retrognathia, Dyspnea, Slender long bone, Abnormal epi... ORPHA:2554
Cornelia De Lange Syndrome 1
Hypoplastic radial head, Proximal placement of thumb, Micromelia, Highly arched eyebrow, Single t... OMIM:122470
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Short ribs, Umbilical hernia, Short femur, Respiratory distress, Short long bo... OMIM:618188
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Epicanthus, Upslanted palpebral fissure, Respiratory distress, Long palpebral fissure, Incisor ma... ORPHA:438216
Adnp Syndrome
Aspiration, Slanting of the palpebral fissure, Polydactyly, Bilateral ptosis, Umbilical hernia, A... ORPHA:404448
Developmental Malformations-Deafness-Dystonia Syndrome
Micromelia, Death in early adulthood, Hypoplastic scapulae, Femoral retroversion ORPHA:79107
Tbck-Related Intellectual Disability Syndrome
Epicanthus, Limb undergrowth, Respiratory insufficiency, Synophrys, Mandibular prognathia, Broad ... ORPHA:488632
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Dyspnea, Finger joint hypermobility, Palmoplantar cutis laxa, Ep... ORPHA:363705