Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paired related homeobox 1
Synonyms:
A230024N07Rik,  MHox1,  K-2,  mHox,  Pmx1,  Prx1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prrx1 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 Prrx1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Prrx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome
Amelia OMIM:601360
Amelia And Terminal Transverse Hemimelia
Amelia OMIM:104400
Hhhh Syndrome
Hemiatrophy OMIM:306960
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, Long philtrum, Clinodactyly of the 5th finger, Microcephaly, Thin upper lip v... OMIM:614701
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Cleft palate, Brachydactyly, Flat capit... OMIM:601560
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Cleft palate, Narrow mouth, Irregular metacarpal... OMIM:304120
Stuve-Wiedemann Syndrome 1
Talipes, Smooth tongue, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Dysphagia, Short nose... OMIM:601559
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Thoracic platyspondyly, 11 pairs of ribs,... OMIM:108720
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Bifid uvula, Abnormal pelvis bone morphology, Sandal gap, Flared femoral... ORPHA:1427
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, Clinodactyly, High palate, Short philtrum, Single transverse palmar crease, Low-set... OMIM:201170
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Cupped ribs, Recurrent otitis media, Metaphyseal irregularity, Joint stiffness, Ov... OMIM:608940
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Tombstone-shaped proximal phalanges,... OMIM:108721
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Asymmetry of the mouth, Absent distal phalange... OMIM:186500
Microphthalmia With Limb Anomalies
Fibular hypoplasia, Sandal gap, Retrognathia, Cleft palate, Short nose, Hip dislocation, High pal... OMIM:206920
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Long philtrum, Fibular hypoplasia... OMIM:114290
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Mesomelia, Short foot OMIM:611263
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the outer ear, Abnormal hip bone morphology, Long philtrum, Clinodactyly of the 5t... ORPHA:251028
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thoracic platyspondyly, Mandibular progna... OMIM:619636
Seckel Syndrome 1
Talipes, Pes planus, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, Micrognathia, ... OMIM:210600
Osteogenesis Imperfecta, Type Iii
Wormian bones, Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Recur... OMIM:259420
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Advanced pneumatization of cranial sinuses, Flared femoral metap... ORPHA:85188
Marshall Syndrome
Long philtrum, Micrognathia, Small distal femoral epiphysis, Irregular femoral epiphysis, Cleft p... OMIM:154780
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Long philtrum, Absent radius, Fibular hypoplasia, Aplasia/Hypop... OMIM:171480
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Fibular hypoplasia, Scoliosis, Short tibia, Short toe, Abnormal... OMIM:127300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Microce... OMIM:210720
Vitamin D-Dependent Rickets, Type 2A
Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral junction, Enlargement o... OMIM:277440
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Tracheomalacia, Fibular hypoplasia, Craniofacial osteosclerosis, Clinodactyly of the... OMIM:300373
Acrodysostosis
Abnormality of the ulna, Open bite, Cone-shaped epiphysis, Micromelia, Spinal canal stenosis, Man... ORPHA:950
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... ORPHA:1106
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Long nose, Congenital stapes ankylosis, Conductive hearing impairment, Broad hall... OMIM:184460
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Campomelic Dysplasia
Tracheomalacia, Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Microgn... ORPHA:140
Spondylometaphyseal Dysplasia, Schmidt Type
Poor suck, Abnormality of the vertebral column, Abnormal ilium morphology, Micrognathia, Scoliosi... ORPHA:93316
Schinzel-Giedion Syndrome
Abnormality of the outer ear, Micrognathia, Macroglossia, Abnormality of the stapes, Sacrococcyge... ORPHA:798
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Small earlobe, Abnormal bone ossification, Hypopl... ORPHA:93315
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Patent ductus arteriosus, Fibular hypoplasia, Radial club h... ORPHA:1972
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Microcephaly, Spina bifida, Mandibular prognathia, Hal... ORPHA:1327
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Coronal cleft vertebrae, Abnormal ilium morpholo... ORPHA:93314
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the ulna, Talipes, Single transverse palmar crease, Fibular hypoplasi... OMIM:227270
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Astley-Kendall Dysplasia
Micromelia ORPHA:85175
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Long philtrum, Low-set ears, Everted lower lip vermilion, M... ORPHA:357175
Cenani-Lenz Syndrome
Short thumb, High, narrow palate, Abnormal rib morphology, Micromelia, Scoliosis, Protruding ear,... ORPHA:3258
Shox-Related Short Stature
High palate, Short neck, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Microg... ORPHA:314795
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Mesomelic leg shortening, Micrognath... OMIM:609945
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Long philtrum, Low-set ears, Everted lower lip vermilion, M... OMIM:615162
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Long philtrum, Metaphyseal spurs, Tented upper lip ... ORPHA:96334
Kyphomelic Dysplasia
Pterygium, Micrognathia, Micromelia, Cleft palate, Cleft upper lip, Flared metaphysis, Ulnar bowi... OMIM:211350
Phocomelia, Schinzel Type
Talipes, Micrognathia, High, narrow palate, Micromelia, Aplasia of the ulna, Protruding ear, Clef... ORPHA:2879
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cle... OMIM:268305
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Abnormal form... ORPHA:1788
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Eiken Syndrome
Abnormal trabecular bone morphology, Fibular hypoplasia, Broad palm, Abnormal bone ossification, ... ORPHA:79106
3M Syndrome
Horizontal ribs, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Micr... ORPHA:2616
Congenital Disorder Of Glycosylation, Type Iy
Clinodactyly, Widely spaced teeth, Joint dislocation, Feeding difficulties, Micrognathia, Microce... OMIM:300934
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Long philtrum, Cerebellar hypoplasia, Micrognathia, Ulnar deviation of the hand or of fingers of ... OMIM:602613
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Mi... OMIM:223800
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Hemi... ORPHA:958
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Léri-Weill Dyschondrosteosis
Genu varum, Abnormality of the ulna, Abnormal hip bone morphology, Clinodactyly of the 5th finger... ORPHA:240
Kinsship Syndrome
Fibular hypoplasia, Pes planus, Widely spaced teeth, Micrognathia, Microcephaly, Dandy-Walker mal... OMIM:619297
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Long philtrum, Pes planus, Widely spaced teeth, Na... OMIM:143095
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Short l... ORPHA:2256
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Lethal Osteosclerotic Bone Dysplasia
Short neck, Low-set ears, Gingival fibromatosis, Respiratory failure, Micrognathia, Dyspnea, Mand... ORPHA:1832
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Short 5th metacarpal, ... OMIM:185800
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Microcephaly-Micromelia Syndrome
Narrow mouth, Craniosynostosis, Short neck, Low-set ears, Absent radius, Aplasia/Hypoplasia of th... OMIM:251230
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation, Scoliosis, Tibial... ORPHA:3320
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulgi... OMIM:264700
Van Den Ende-Gupta Syndrome
Everted lower lip vermilion, Distal ulnar hypoplasia, High, narrow palate, Camptodactyly of toe, ... OMIM:600920
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Abnormality of the outer ear, Absent tragus, Accessory oral frenulum, Underdevelop... ORPHA:79113
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Gastrostomy tube feeding ... ORPHA:141152
Brachymesomelia-Renal Syndrome
Single transverse palmar crease, Cutis marmorata, Low-set ears, Fibular hypoplasia, Hypoplasia of... OMIM:113470
Postaxial Acrofacial Dysostosis
Cupped ear, Hypoplasia of the ulna, Finger syndactyly, Non-midline cleft lip, Conductive hearing ... ORPHA:246
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Long philtrum, Radial head subluxation, Pes planus, 11 pairs of r... OMIM:271640
Camptodactyly Syndrome, Guadalajara, Type I
Bifid uvula, Small earlobe, Fibular hypoplasia, Abnormality of dental eruption, Twelfth rib hypop... OMIM:211910
Geroderma Osteodysplasticum
Osteoporosis, Progeroid facial appearance, Microcephaly, Mandibular prognathia, Malar flattening,... OMIM:231070
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Fibular hypoplasia, Esophageal diverticulum, M... OMIM:617925
Cartilage-Hair Hypoplasia
Abnormal distal phalanx morphology of finger, Abnormal hip bone morphology, Abnormal bone ossific... ORPHA:175
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Spina bifida, Sho... ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Flared, irregular ... OMIM:602111
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fi... OMIM:200700
Achondroplasia
Brachydactyly, Genu varum, Recurrent otitis media, Bowing of the legs, Trident hand, Short femora... OMIM:100800
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Squared iliac bones, Horizontal sacrum,... OMIM:112350
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Cerebral calcification, Intestinal malrotation, Abnormality of fibula m... ORPHA:3035
Ophthalmomandibulomelic Dysplasia
Coxa valga, Temporomandibular joint ankylosis, Decreased mobility 3rd-5th fingers, Fibular hypopl... OMIM:164900
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Tapered finger, Micrognathia, Microcephaly, Short 1st metacarpal, G... ORPHA:949
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Acrocephalopolydactyly
Brachydactyly, Short neck, Protuberant abdomen, Microtia, Genu recurvatum, Limb undergrowth, Shor... ORPHA:221054
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Robinow Syndrome, Autosomal Dominant 2
Clinodactyly, Long philtrum, Micrognathia, Thin upper lip vermilion, Macrocephaly, Short nose, Tr... OMIM:616331
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Cerebral atrophy, Hypoplasia of the ulna, Osteopenia, Long philtrum, Low-set ears, P... OMIM:615398
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the corpus callosum, Low-set ears, Cone-shaped epiphyses of the phal... OMIM:617102
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Multiple prenatal fractures, Decreased skull ossification, Scol... OMIM:610915
Melnick-Needles Syndrome
Recurrent otitis media, Pes planus, Micrognathia, Anterior concavity of thoracic vertebrae, Genu ... OMIM:309350
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Long philtrum, Radial club hand, Conductive hearing impairment, Aplasia/H... ORPHA:2878
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Long philtrum, Fibular hypoplasia, Constipation, Micrognathia, Macroglossia, Micr... ORPHA:444077
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia OMIM:274210
Otopalatodigital Syndrome Type 2
Carpal synostosis, Cerebellar hypoplasia, Short thumb, Micrognathia, Abnormal rib morphology, Sco... ORPHA:90652
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Malar flattening... OMIM:118651
Temple Syndrome
Clinodactyly, Recurrent otitis media, Bifid uvula, Flexion contracture, High palate, Short philtr... OMIM:616222
Meckel Syndrome, Type 8
Encephalocele, Short neck, Cleft upper lip, Low-set ears, Polydactyly, Microcephaly, Abdominal di... OMIM:613885
Smith-Magenis Syndrome
Abnormality of the outer ear, Brachydactyly, Short palm, Velopharyngeal insufficiency, Pes planus... OMIM:182290
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Pes planus, Agenesis of central incisor, Wide ... OMIM:311450
Otoonychoperoneal Syndrome
Abnormality of the ear, Low-set ears, Aplasia/Hypoplasia of the fibula, Ankle flexion contracture... OMIM:259780
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Micrognathia, High, narrow palate, Scoliosis, Retrognathia, Macrocephaly, Coarse met... ORPHA:2780
Cousin Syndrome
Microtia, first degree, Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Cle... OMIM:260660
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Microcephaly, Scoliosis, Hand clenching, Retrognathia, Arthrogryposis multiplex con... OMIM:611890
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxy... ORPHA:2302
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Micrognathia, Spina bifida, Aplasia/Hypoplasia of the ribs, ... ORPHA:2839
Eiken Syndrome
Clinodactyly, Delayed ossification of carpal bones, Fibular hypoplasia, Broad femoral neck, Multi... OMIM:600002
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Single transve... OMIM:617866
Femoral-Facial Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Abnormal rib morphology, ... ORPHA:1988
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia OMIM:614096
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Short palm, Low-set ears, Hypoplastic scapulae, Metaphyseal... ORPHA:85166
Kniest Dysplasia
Coronal cleft vertebrae, Recurrent otitis media, Tracheomalacia, Flattened, squared-off epiphyses... OMIM:156550
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Aplasia/Hy... ORPHA:3232
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Narrow mouth, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Micro... OMIM:612447
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Upper lip pit, Pes planus, Elbow dislocation, ... ORPHA:2804
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Pes planus, Micrognathia, Scoliosis, Genu valgu... OMIM:618363
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Popliteal pterygium, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Foot polydactyly, High pala... OMIM:258860
Trisomy 4P
Abnormal palate morphology, Short neck, Abnormality of the dentition, Radial club hand, Carious t... ORPHA:1738
Postaxial Acrofacial Dysostosis
Cupped ear, Hypoplasia of the ulna, Cleft upper lip, Low-set ears, Conical tooth, Conductive hear... OMIM:263750
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Short neck, Low-set ears, Hypoplast... ORPHA:2347
Alg3-Cdg
High palate, Hypoplasia of the corpus callosum, Osteopenia, Abnormality of limb bone morphology, ... ORPHA:79321
Alagille Syndrome
Short philtrum, Long nose, Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Clinoda... ORPHA:52
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Genu varum, Enlargement of the costochondral junction, Delayed eruptio... ORPHA:289157
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Slc35A2-Cdg
Microcephaly, Dandy-Walker malformation, Scoliosis, Short tibia, Cortical dysplasia, Dilation of ... ORPHA:356961
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Osteopo... OMIM:184260
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Abnormal foot morphology, Micrognathia, Lower limb undergr... OMIM:236640
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Hemivertebrae, Hip dislocation, High palate, Hypopl... OMIM:200980
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Distal Trisomy 5Q
Brachydactyly, Absent thumb, Narrow mouth, Craniosynostosis, Hypoplasia of the ulna, Long philtru... ORPHA:96097
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Genu varum, Narrow mouth, Abnormal aortic arch morphology, Abnormal hip bone mo... ORPHA:1110
Fountain Syndrome
Everted lower lip vermilion, Scoliosis, Spina bifida, Macrocephaly, Coarse metaphyseal trabecular... ORPHA:3219
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Atresia of the external auditory canal, Hypoplasia of the r... OMIM:614900
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
External ear malformation, Conductive hearing impairment, Abnormality of the stapes OMIM:124490
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, Narrow mouth, Cervical kyphosis, High palate, F... OMIM:245160
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Progressive microcephaly, Patent ductus arteriosus, Rhizomelia, Sensorineural hea... OMIM:607143
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulgi... OMIM:600081
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Short palm, Patent ductus arteri... ORPHA:166272
Atelosteogenesis Type Ii
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... ORPHA:56304
Baller-Gerold Syndrome
Carpal synostosis, Bifid uvula, Micrognathia, Carpal bone aplasia, Scoliosis, Bicoronal synostosi... OMIM:218600
Pulmonary Blastoma
Recurrent pneumonia, Cough, Pleuropulmonary blastoma, Dyspnea ORPHA:64741
Achondrogenesis Type 1A
Short neck, Short palm, Abnormal enchondral ossification, Recurrent fractures, Long philtrum, Mic... ORPHA:93299
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Osteomalacia, Abnormal... ORPHA:289176
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Hypoxemia, Airway obstruction, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Osteogenesis Imperfecta, Type I
Wormian bones, Bruising susceptibility, Osteopenia, Recurrent fractures, Biconcave flattened vert... OMIM:166200
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Hypoplastic vertebral bodies, Short diaphyses, Cleft palate, Brachydacty... OMIM:245190
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Aarskog-Scott Syndrome
Talipes, Long philtrum, Pes planus, Clinodactyly of the 5th finger, Broad palm, Everted lower lip... ORPHA:915
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Respiratory failure, Micrognathia, Truncus arteriosus, Neonatal death, Re... OMIM:228940
Rhyns Syndrome
Brachydactyly, Osteopenia, Short femoral neck, Conductive hearing impairment, Anterior hypopituit... OMIM:602152
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Short toe, Short nose, Ovoid vertebral bodies, Cone-shape... OMIM:602875
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Bowing of the long bones, Brachydactyly, Joint stiffness, Fibular hyp... ORPHA:2098
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Scoliosis, Short 1st metacarpal, Hypoplasi... OMIM:147750
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Hypoplastic frontal sinuses, Median cleft palat... OMIM:136760
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Recurrent otitis media, Tetralogy of Fallot, Single transverse pal... ORPHA:3304
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Mesomelic leg shortening, Tachypnea, Microgn... ORPHA:2751
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Cupped ear, Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the... ORPHA:1352
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microtia, first degree, Cupped ear, Hypoplasia of the ulna, Tetralogy of Fallot, Absent radius, C... OMIM:600123
Congenital Insensitivity To Pain With Severe Intellectual Disability
Nasogastric tube feeding in infancy, Recurrent fractures, Rocker bottom foot, Tibial bowing, Cong... ORPHA:453510
Orofaciodigital Syndrome Type 10
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Ret... ORPHA:2756
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Osteogenesis Imperfecta, Type Iv
Wormian bones, Bowing of limbs due to multiple fractures, Kyphosis, Recurrent fractures, Biconcav... OMIM:166220
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Phaver Syndrome
Pterygium, Short thumb, Abnormal rib morphology, Hypoplastic aortic arch, Conductive hearing impa... ORPHA:2876
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Joint stiffness, Multiple joint contractures, Trism... ORPHA:916
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis OMIM:156232
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Tooth malposition, Micrognathia, Distal ulnar hy... OMIM:277150
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Epiphyseal stippling of toe phalanges, Ca... ORPHA:79345
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respira... ORPHA:2004
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Tetrasomy 5P
Long philtrum, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Micrognathia, Macrocephaly,... ORPHA:3309
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Arthrogryposis, Distal, Type 1C
Bifid uvula, Clinodactyly of the 5th finger, Scoliosis, Camptodactyly of toe, Retrognathia, Cleft... OMIM:619110
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Distal arthrogryposis, Mesoaxial pol... ORPHA:672
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:619003
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Radial head subluxat... ORPHA:2634
Aminopterin/Methotrexate Embryofetopathy
Talipes, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Micromelia, Microcephaly, Mandi... ORPHA:1908
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Finger syndactyly, Short neck, Low-set ears, Underfolded helix, Long philtrum, ... ORPHA:178303
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Micrognathia, Micromelia, Limb undergrowth OMIM:269870
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulgi... OMIM:241530
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Grant Syndrome
Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia OMIM:138930
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... OMIM:166210
Heart And Brain Malformation Syndrome
Cerebral atrophy, Low-set ears, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, ... OMIM:616920
Trisomy 20P
Abnormal hip bone morphology, Talipes, Everted lower lip vermilion, Microdontia, Micrognathia, Sc... ORPHA:261318
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Cleft Velum
Poor suck, Recurrent otitis media, Velopharyngeal insufficiency, Cleft soft palate, Conductive he... ORPHA:99772
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Shallow acetabular fossae, Purpura, Sensorineural hearing impairment, Clinodactyly of ... OMIM:605432
17Q24.2 Microdeletion Syndrome
Short philtrum, Recurrent otitis media, Short neck, Pineal cyst, Thin upper lip vermilion, Upper ... ORPHA:529962
Renal Dysplasia-Limb Defects Syndrome
Narrow mouth, High palate, Short neck, Phocomelia, Low-set ears, Short sternum, Short metacarpal,... OMIM:266910
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Recurrent aspiration pneumonia, Cleft palate, Median cleft... OMIM:300484
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal sacrum morphology,... ORPHA:2345
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respirato... ORPHA:91359
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Thoracic kyphosis, Short neck, Hypoplastic sacrum, Short femoral neck, Cone-s... OMIM:304950
Greenberg Dysplasia
Talipes, Multiple prenatal fractures, Hypoplastic vertebral bodies, 11 pairs of ribs, Broad palm,... OMIM:215140
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Pes planus, Micrognathia, Microcephaly, Scoliosis, Metaphyseal widening... OMIM:182212
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Abnormal helix morphology, Patent ductus arteriosus, Triphalangeal thu... ORPHA:1120
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Cardiorespiratory arrest, Hip dysplasia, Cleft palate, Long upper lip, H... ORPHA:93359
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Agenesis of corpus callosum, Low-set ears, Rocker bottom foot, Feeding di... ORPHA:89844
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Presynaptic Congenital Myasthenic Syndromes
Poor suck, Central sleep apnea, Pes cavus, Dysphagia, Arthrogryposis multiplex congenita, Narrow ... ORPHA:98914
Congenital Myasthenic Syndrome
Poor suck, Central sleep apnea, Pes cavus, Dysphagia, Arthrogryposis multiplex congenita, Narrow ... ORPHA:590
Cranioectodermal Dysplasia 1
Clinodactyly, Hepatic failure, Fibular hypoplasia, Everted lower lip vermilion, Osteoporosis, Wid... OMIM:218330
Omodysplasia 1
Long philtrum, Fibular hypoplasia, Increased fibular diameter, Micrognathia, Limited knee flexion... OMIM:258315
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiph... ORPHA:2768
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal form of the vertebral bodies, Low-set ea... ORPHA:2759
Meier-Gorlin Syndrome 1
Genu varum, Absent sternal ossification, Clinodactyly of the 5th finger, Atresia of the external ... OMIM:224690
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Large joint dislocations, Scoliosis, Delayed patellar ossification, Long distal phalanx of finger... OMIM:603546
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Bifid uvula, Bifid distal phalanx of the thumb, Conductive hearing imp... ORPHA:2669
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Acrofacial Dysostosis 1, Nager Type
Clinodactyly, Trismus, Atresia of the external auditory canal, Micrognathia, Microcephaly, Scolio... OMIM:154400
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Neu-Laxova Syndrome
Abnormal cortical gyration, Bifid uvula, Pterygium, Trismus, Cerebellar hypoplasia, Everted lower... ORPHA:2671
Perching Syndrome
High palate, Flexion contracture, Feeding difficulties, Dysphagia, Respiratory distress, Camptoda... OMIM:617055
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Large joint dislocations, Long philtrum, ... ORPHA:536467
Carpenter Syndrome 1
Genu varum, Aplasia/Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Complete d... OMIM:201000
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Dislocated radi... OMIM:618395
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Joint stiffness, Tooth agenesis, Micrognathia,... ORPHA:1166
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Branchiogenic-Deafness Syndrome
Branchial cyst, Trismus, Sensorineural hearing impairment, Abnormal foot morphology, Atresia of t... OMIM:609166
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Small hypothenar eminence, Bifid uvula, Temporomandibular joint ankylosis, Low-se... ORPHA:2872
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Hearing impairment, Hypertrophic aur... OMIM:222600
Diastrophic Dysplasia
Micrognathia, Abnormal rib morphology, Micromelia, Scoliosis, Macrocephaly, Hip dysplasia, Cleft ... ORPHA:628
Van Maldergem Syndrome 1
Clinodactyly, Tracheomalacia, Atresia of the external auditory canal, Tented upper lip vermilion,... OMIM:601390
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Micrognathi... OMIM:274000
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Kyphosis, Tracheomalacia, Conductive hearing impairment... ORPHA:1393
Diaphanospondylodysostosis
Vertebral segmentation defect, Missing ribs, Short neck, Tracheomalacia, Low-set ears, Hammertoe,... OMIM:608022
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, Hypoplas... OMIM:156510
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Progressive microcephaly, Cerebellar hypoplasia, Tented upper lip vermilion, Microce... OMIM:618622
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Short palm, Coxa vara ORPHA:168555
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Malar ... ORPHA:52056
Satb2-Associated Syndrome Due To A Pathogenic Variant
Bifid uvula, Long philtrum, Clinodactyly of the 5th finger, Micrognathia, Dysphagia, Thin upper l... ORPHA:576283
Fanconi Anemia
Abnormal thumb morphology, Abnormality of the ulna, Pes planus, Clinodactyly of the 5th finger, M... ORPHA:84
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Trisomy 8P
Bifid uvula, Clinodactyly of hallux, Constipation, Clinodactyly of the 5th finger, Microcephaly, ... ORPHA:264450
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Severe sensorineural hearing impai... ORPHA:363417
Conductive Deafness-Malformed External Ear Syndrome
High palate, Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Micro... ORPHA:3216
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Prominent superficial veins, Upper l... ORPHA:75508
Cri-Du-Chat Syndrome
Abnormal respiratory system physiology, Bifid uvula, Pes planus, Microcephaly, Scoliosis, High pa... OMIM:123450
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Pes planus, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High... OMIM:612350
Nager Syndrome
Abnormal palate morphology, Joint stiffness, Phocomelia, Non-midline cleft lip, Aplasia/Hypoplasi... ORPHA:245
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Overriding aorta, Tetralogy of Fallot, Hypoplasia of the ulna, Foot... ORPHA:3186
Czeizel-Losonci Syndrome
Hydrocephalus, High palate, Myelomeningocele, Single transverse palmar crease, Tracheoesophageal ... ORPHA:2437
Spondyloepiphyseal Dysplasia Congenita
Limitation of knee mobility, Bifid uvula, Delayed calcaneal ossification, Scoliosis, Cleft palate... OMIM:183900
Lujan-Fryns Syndrome
Brachydactyly, High palate, Short philtrum, Low-set ears, Abnormality of the dentition, Aplasia/H... ORPHA:776
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Metaphyseal irregularity, Flexion contracture, Short neck, Short ribs, Delayed pubic ... OMIM:613330
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Scoliosis,... OMIM:170390
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Clinodactyly, High palate, Short palm, Tapered finger, Hypoplasia of the maxilla, Microcephaly, P... ORPHA:85279
Pycnodysostosis
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Decreased response to growth hormone... ORPHA:763
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal corpus callosum morphology, Spinal cord compression, Macroglossia, Spinal canal stenosis... ORPHA:217093
Van Maldergem Syndrome 2
Clinodactyly, Tracheomalacia, Atresia of the external auditory canal, Tented upper lip vermilion,... OMIM:615546
Achondroplasia
Hypoxemia, Hip joint hypermobility, Central sleep apnea, Spinal canal stenosis, Narrow greater sc... ORPHA:15
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Sacrococcygeal teratoma, Short 1st metacarpal, Short nose, Short neck, Single trans... OMIM:269150
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Long philtrum, Patent ductus arteriosus, Low-set ears, Decreased liver function, Abdo... OMIM:608104
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Abnormal sacrum morphology, Hydrocephalus, Abnormal palate morphology, Abnormal fo... ORPHA:93262
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Flexion contracture, Long philtrum, Coronal craniosynostosis, Rocker... OMIM:207410
Desmosterolosis
Abnormal cortical gyration, Bifid uvula, Talipes, Micrognathia, Micromelia, Microcephaly, Lissenc... ORPHA:35107
Pde4D Haploinsufficiency Syndrome
Long philtrum, Pes planus, Cone-shaped epiphysis, Micrognathia, Mandibular prognathia, Short toe,... ORPHA:439822
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Oligodontia of primary teeth, No permanent dentition... OMIM:216300
Blomstrand Lethal Chondrodysplasia
Long philtrum, Micrognathia, Distal shortening of limbs, Short nose, Bowing of the long bones, In... ORPHA:50945
Auriculocondylar Syndrome
Bifid uvula, Question mark ear, Micrognathia, Hamartoma of tongue, Mandibular condyle aplasia, Ma... ORPHA:137888
Gorham-Stout Disease
Abnormal pelvis bone morphology, Spinal cord compression, Abnormal bone ossification, Osteolysis ... ORPHA:73
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Microtia, Wide nasal bridge, Hypoplasia of the maxilla, Malar flatte... ORPHA:261295
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Conductive h... ORPHA:1307
Mucopolysaccharidosis Type 2, Severe Form
Spinal cord compression, Macroglossia, Spinal canal stenosis, Otosclerosis, Macrocephaly, Hip dys... ORPHA:217085
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Joint stiffness, Talipes, Hypoplasia of the radius, Elbow dislocation, Me... ORPHA:2249
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Long philtrum, Duplication of phalanx of hand, Pes planus, Clinodactyly of ... ORPHA:508498
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Anterior rib cupping, Pes planus... OMIM:184250
Tarp Syndrome
Clinodactyly, Abnormal corpus callosum morphology, Small earlobe, Abnormal duodenum morphology, C... ORPHA:2886
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Kyphosis, Conductive hearing impairment, Sensorineural hearin... OMIM:108300
Diabetic Embryopathy
Hydrocephalus, Abnormal sacrum morphology, Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus ... ORPHA:1926
Coffin-Lowry Syndrome
Narrow iliac wing, Pes planus, Aplasia/Hypoplasia of the corpus callosum, Tapered finger, Everted... ORPHA:192
Moebius Syndrome
Clinodactyly, Bifid uvula, Pes planus, Micrognathia, Hypoplasia of the brainstem, Hand clenching,... OMIM:157900
Martsolf Syndrome 1
Tracheomalacia, Broad fingertip, Micrognathia, Microcephaly, Short toe, Tooth malposition, High p... OMIM:212720
Auriculocondylar Syndrome 3
Bifid uvula, Question mark ear, Micrognathia, Glossoptosis, Retrognathia, Bilateral conductive he... OMIM:615706
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Ta... ORPHA:79126
Mosaic Trisomy 9
Micrognathia, Micromelia, Microcephaly, Scoliosis, Dandy-Walker malformation, Spina bifida, Hemiv... ORPHA:99776
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Spinal cord compression, Abnormal joint morphology, ... ORPHA:485
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Broad palm, Hamartoma of tongue, Short toe, Median cleft lip and palate, Macroce... OMIM:269860
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Fryns Syndrome
Long philtrum, Clinodactyly of the 5th finger, Tented upper lip vermilion, Micrognathia, Dandy-Wa... ORPHA:2059
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology, Micrognathia, Low-set, posteriorly rotated ears, Thin ... ORPHA:2015
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Conductive hearing impairme... ORPHA:2549
Spondyloepiphyseal Dysplasia Tarda
Increased arm span, Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobil... ORPHA:93284
Distal Tetrasomy 15Q
High palate, Cupped ear, Craniosynostosis, Abnormal helix morphology, Low-set ears, Flexion contr... ORPHA:314588
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Restrictive ventilatory defect, Flexion contracture, 2-3 toe syndactyly, Agenesis of... OMIM:218000
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Stippled calcification of the shoulder, Calcification of ... ORPHA:51608
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hemivertebra... ORPHA:93322
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Cone-shaped epiphyses of the phalanges of... OMIM:250460
Meier-Gorlin Syndrome 5
Clinodactyly, Small earlobe, Low-set ears, Long philtrum, Gastroesophageal reflux, Microtia, Elbo... OMIM:613805
Hallermann-Streiff Syndrome
Tracheomalacia, Everted lower lip vermilion, Micrognathia, High, narrow palate, Microcephaly, Sco... OMIM:234100
Focal Dermal Hypoplasia
Upper limb asymmetry, Open bite, Telangiectasia of the skin, Scoliosis, Spina bifida, Coarse meta... ORPHA:2092
Neurogenic Arthrogryposis Multiplex Congenita
Flexion contracture, Rocker bottom foot, Equinovarus deformity, Feeding difficulties, Ankle flexi... ORPHA:1143
Osteoglophonic Dysplasia
Long philtrum, Broad palm, Pseudoarthrosis, Mandibular prognathia, Short nose, Bowing of the long... OMIM:166250
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Talipes, Radial club hand, Sandal gap, Short thumb, Vertebral fusion, ... ORPHA:959
Stickler Syndrome Type 1
Long philtrum, Abnormality of epiphysis morphology, Sensorineural hearing impairment, Osteoarthri... ORPHA:90653
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Joint stiffness, Talipes, Clinodactyly of the 5th finger, Abn... ORPHA:2557
Craniometadiaphyseal Dysplasia
Genu varum, Absent paranasal sinuses, Microdontia, Scoliosis, Mandibular prognathia, Broad long b... OMIM:269300
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Gastroesophageal reflux, Respiratory failure, Respir... OMIM:614399
Dubowitz Syndrome
Aplasia/Hypoplasia of the corpus callosum, Sandal gap, Clinodactyly of the 5th finger, Micrognath... ORPHA:235
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Tarp Syndrome
Clinodactyly, Abnormal corpus callosum morphology, Cerebellar hypoplasia, Micrognathia, Cleft pal... OMIM:311900
Distal Monosomy 17Q
Narrow mouth, Abnormal hip bone morphology, Abnormal thumb morphology, Upper limb asymmetry, Abno... ORPHA:1597
Duane-Radial Ray Syndrome
Small thenar eminence, Pes planus, Sandal gap, Short thumb, Scoliosis, Aplasia of metacarpal bone... OMIM:607323
Lateral Meningocele Syndrome
Long philtrum, Micrognathia, Scoliosis, Vertebral fusion, High palate, Short neck, Patent ductus ... OMIM:130720
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limitation of knee mobility, Limited elbow movement OMIM:276821
Nail-Patella Syndrome
Quadriceps aplasia, Absent distal interphalangeal creases, Pes planus, Clinodactyly of the 5th fi... OMIM:161200
Emanuel Syndrome
Recurrent otitis media, Bifid uvula, Long philtrum, Constipation, Micrognathia, Microcephaly, Dan... ORPHA:96170
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Spars... OMIM:300554
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Narrow mouth, Wide nasal bridge, Micrognathia, Anisospondyly, Malar fla... OMIM:224410
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Micrognathia, Scoliosis, Bilateral p... OMIM:252100
Temtamy Syndrome
Brachydactyly, Genu varum, Abnormal palate morphology, Low-set ears, Pes planus, Clinodactyly of ... ORPHA:1777
Saethre-Chotzen Syndrome
Open bite, Prominent crus of helix, Clinodactyly of the 5th finger, Scoliosis, Hallux valgus, Cle... ORPHA:794
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sensorine... ORPHA:2790
Weill-Marchesani Syndrome 2
Broad palm, Scoliosis, Spinal canal stenosis, Thickened helices, Tooth malposition, Brachydactyly... OMIM:608328
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Feeding difficulties in infancy, Progressive microcephaly, Low-set ears, Conducti... OMIM:610536
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Narrow vertebral interpedicular distance, Scoliosis, Abdominal distention, Metaphysea... ORPHA:93352
Lateral Meningocele Syndrome
Atresia of the external auditory canal, Micrognathia, High, narrow palate, Scoliosis, High palate... ORPHA:2789
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Bifid uvula, Long philtrum, Cerebellar hypoplasia, Tapered finger, Pe... OMIM:300968
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatic failure, Short neck, Low-set ears, Alveolar ridge overgrowth, Pancreatic lym... OMIM:235255
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Hypoplasia of the corpus callosum, Flexion contracture, Widely spaced teeth, Fe... OMIM:618006
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple prenatal fractures, Cerebellar hypoplasia, Decreased fibular diameter, Decreased skull o... OMIM:616897
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Scoliosis, Abnormality of tibia morphology OMIM:188800
Ear-Patella-Short Stature Syndrome
Abnormality of the outer ear, Bifid uvula, Clinodactyly of the 5th finger, Atresia of the externa... ORPHA:2554
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, High, narrow palate, Short middle phalanx of the 2nd fing... OMIM:119600
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
20Q13.33 Microdeletion Syndrome
Hematochezia, Hypoplasia of the corpus callosum, Sacral dimple, Abnormality of limb bone morpholo... ORPHA:261311
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Micromelia, Abdominal distention, Mala... OMIM:600972
Anophthalmia Plus Syndrome
Deviation of finger, Non-midline cleft lip, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia... ORPHA:1104
Megalocornea-Mental Retardation Syndrome
High palate, Pes valgus, Cupped ear, Osteopenia, Bifid uvula, Long philtrum, Pes planus, Wide nas... OMIM:249310
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal hip bone morphology, Abnormal palate morphology, Aplasia/Hypoplasia of the middle ear, C... ORPHA:3236
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Clinodactyly, High palate, Bifid uvula, Flexion con... OMIM:618658
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Osteopenia, Short femoral neck, Sensorineural hearing i... OMIM:608154
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Schneckenbecken Dysplasia
Short neck, Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Abnor... ORPHA:3144
Charge Syndrome
Radial head subluxation, Aplasia of the semicircular canal, Short thumb, Micrognathia, Double out... OMIM:214800
Dysostosis Multiplex, Ain-Naz Type
Elongated femoral neck, Hypoplastic iliac wing, Scoliosis, Abdominal distention, Wide humerus, Th... OMIM:619345
De Barsy Syndrome
Abnormal corpus callosum morphology, Progressive microcephaly, Generalized joint laxity, Progeroi... ORPHA:2962
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Congenital Disorder Of Glycosylation, Type Iu
High palate, Cerebellar hypoplasia, Cerebral white matter atrophy, Feeding difficulties, Microgna... OMIM:615042
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Dif... ORPHA:199241
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Thoracic platyspondyly,... ORPHA:457395
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, Sensorineural hearing impairment, Micrognathia, Joint hypermo... OMIM:604841
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Spinal canal stenosis,... OMIM:263540
Arterial Tortuosity Syndrome
Prematurely aged appearance, Clinodactyly of the 5th finger, Telangiectasia of the skin, Scoliosi... ORPHA:3342
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Progressive microcephaly, Global brain atrophy, Hyperintensity of cerebral white m... ORPHA:481152
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Short distal phalanx of the thumb, Bifid distal phalanx of the thumb, Short distal p... OMIM:256200
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... ORPHA:239
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Micromelia, Generalized osteosclerosis, Limb... ORPHA:1423
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Mesomelia, Micrognathia ORPHA:1277
Viss Syndrome
Bifid uvula, Carotid artery tortuosity, Pes planus, Generalized joint laxity, Micrognathia, Doubl... OMIM:619472
Caffey Disease
Bowing of the legs, Cortical irregularity, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Multiple Synostoses Syndrome 4
Brachydactyly, Pes planus, Broad foot, Tarsal synostosis, Otosclerosis, Overlapping toe OMIM:617898
Steinfeld Syndrome
Abnormality of the vertebral column, Hypoplasia of the ulna, Bifid uvula, Phocomelia, Missing rib... OMIM:184705
Maxillonasal Dysplasia
Vertebral clefting, Open bite, Aplasia/Hypoplasia of the distal phalanges of the toes, Microdonti... ORPHA:1248
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Spinal cord compression, Macroglossia, Otosclerosis, Macrocepha... ORPHA:580
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, Clinodactyly, Recurrent otitis media, Bifid uvula, High palate, Short philtrum, Fee... ORPHA:96184
Dyschondrosteosis-Nephritis Syndrome
Microdontia, Madelung deformity, Micromelia, Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of t... ORPHA:1765
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Long foot, Sensorineural hearing impairment, Tibial bowing, Metatarsus... ORPHA:500095
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Finger joint hypermobility, Metacarpophalangeal joint contracture, Flexion contracture, Hyperexte... ORPHA:544503
Maternal Uniparental Disomy Of Chromosome 9
Short neck, Low-set ears, Osteochondrosis, Feeding difficulties, Abnormal vertebral morphology, M... ORPHA:96183
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Bifid uvula, Micrognathia, Ulnar deviation of the hand or of fingers of th... OMIM:114300
Congenital Disorder Of Glycosylation, Type Id
Clinodactyly, High palate, Bifid uvula, Flexion contracture, Cerebral atrophy, Vomiting, Wide nas... OMIM:601110
Ulbright-Hodes Syndrome
Micrognathia, Abnormal rib morphology, Long upper lip, Narrow mouth, Ovoid thoracolumbar vertebra... ORPHA:3404
Genitopalatocardiac Syndrome
Cleft upper lip, Low-set ears, Double outlet right ventricle, Micrognathia, Right aortic arch, Tr... OMIM:231060
Orofaciodigital Syndrome Type 4
Abnormality of the outer ear, Genu varum, Bifid uvula, Abnormality of the tongue, Micrognathia, H... ORPHA:2753
Orofaciodigital Syndrome Ix
Accessory oral frenulum, Toe syndactyly, High palate, Hand polydactyly, Microcephaly, Short tibia... OMIM:258865
Frontometaphyseal Dysplasia
Pes valgus, Limitation of knee mobility, Bifid uvula, Micrognathia, Pes cavus, Scoliosis, Metaphy... ORPHA:1826
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency, Bilateral lung agenesis OMIM:601612
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Single transverse palmar crease, Low-set ears, Conductive hearing impai... OMIM:617412
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, Joi... ORPHA:3201
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Microdontia, Short thumb, Telangiectasia of the skin, Planta... ORPHA:2909
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Patent ductus arteriosus, Upper limb undergrowth, Ankle flexion contracture, Microgna... OMIM:608799
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Low-set ears, Pes planus, Clinodactyly of the 5th finger, Sensorin... OMIM:301022
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Scoliosis, Multiple i... OMIM:311300
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Talipes, Pes planus, Clinodactyly of the 5th finger, Micrognathia, Thin upper lip ve... OMIM:300990
Aarskog-Scott Syndrome
Clinodactyly, Pes planus, Elevated circulating luteinizing hormone level, Broad palm, Scoliosis, ... OMIM:305400
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Shprintzen-Goldberg Syndrome
Missing ribs, Pes planus, Micrognathia, High, narrow palate, Microcephaly, Scoliosis, Retrognathi... ORPHA:2462
Dent Disease 1
Enlargement of the ankles, Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Spars... OMIM:300009
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Long philtrum, Clinodactyly of the 5th finger, 11 pairs of ribs, ... OMIM:117650
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Poor suck, High palate, Hypoplasia of the corpus callosum, Flexion contracture, Long philtrum, Lo... OMIM:619383
Amish Lethal Microcephaly
Agenesis of corpus callosum, Cleft soft palate, Osteoporosis, Decreased skull ossification, Micro... ORPHA:99742
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Prominent crus of helix, Microdontia, Macroglossia, Scoliosis, Retrognathia, Thin upper lip vermi... OMIM:619194
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, Micrognathia, Scoliosis, Thin upper lip vermilion, Cleft palate, Lowe... ORPHA:404440
Pfeiffer Syndrome Type 2
Tracheomalacia, Atresia of the external auditory canal, Small hand, Broad thumb, Cleft palate, Sh... ORPHA:93259
Schilbach-Rott Syndrome
Narrow mouth, Clinodactyly, Long nose, Bifid uvula, 3-4 finger cutaneous syndactyly, Microtia, Mi... OMIM:164220
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal respiratory system physiology, Aplasia/hypoplasia involving bones of the extremities, Hy... ORPHA:93346
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Low-set ears, Unilateral cleft lip, Anencephaly, Microg... ORPHA:2189
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Micrognathia, Epiphyseal stippling of the humerus,... ORPHA:56305
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Feeding difficulties in infancy, Bifid uvula, Cleft upper lip, 2-3 ... OMIM:608572
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Irregular carpal bones, I... ORPHA:750
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Jacobsen Syndrome
Missing ribs, Talipes, Long philtrum, Pes planus, Constipation, Scoliosis, Spina bifida, Short to... ORPHA:2308
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Spinal cord compre... ORPHA:321
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Micrognathia, Micromelia, Microcephaly, Broad long bones, Cleft palate, Encephalocele,... ORPHA:1865
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Feeding difficulties, Wide nasal bridge, Micrognathia, Microcephaly, Macrotia, Re... ORPHA:261304
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Sensorineural hearing impairment, Hypoplasia of the maxilla, Ulnar deviation of fin... ORPHA:1529
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, Drooling, Open mouth, Tapered finger, Hypoplasia of teeth, ... ORPHA:3010
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Long philtrum, Progressive microcephaly, Cerebellar hypoplasia, Clinodactyly... OMIM:614407
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal distal phalanx morphology of finger, Long nose, Bifid uvula, Clinodactyly of the 5th fin... ORPHA:2636
Apert Syndrome
Bifid uvula, Cervical C5/C6 vertebrae fusion, Micromelia, Mandibular prognathia, Cleft palate, Co... ORPHA:87
Gaucher Disease Type 2
Recurrent respiratory infections, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Branchiogenic Deafness Syndrome
Branchial cyst, Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, S... ORPHA:50815
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, Micrognathia, High, narrow palate, Micromelia, Abn... ORPHA:2496
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Oral cleft, Microcephaly, Lower limb undergrowth, Forearm undergrowth OMIM:218650
Spondyloepiphyseal Dysplasia Congenita
Abnormal respiratory system physiology, Spinal cord compression, Osteoporosis, Micrognathia, Scol... ORPHA:94068
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Short philtrum, Long nose, Flexion contracture, Agenesis of corpus callosum, Low-set... OMIM:309520
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Wormian bones, Osteopenia, Delayed eruption of teeth, Sensorineural hearing impair... OMIM:601812
Cohen Syndrome
Pes planus, Cerebellar hypoplasia, Tapered finger, Micrognathia, High, narrow palate, Microcephal... OMIM:216550
Basal Cell Nevus Syndrome
Plantar pits, Bifid ribs, Scoliosis, Spina bifida, Vertebral fusion, Mandibular prognathia, Macro... OMIM:109400
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Cerebral atrophy, Progressive microcephaly, Low-set ears, Hypoplasia... OMIM:614261
Chromosome 18Q Deletion Syndrome
Bifid uvula, Pes planus, Cerebellar hypoplasia, Atresia of the external auditory canal, Pes cavus... OMIM:601808
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, Prematurely aged appearance, High, narrow palate, Scoliosis, Mandibular prognathia, ... ORPHA:2658
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Feeding difficulties in infancy, Patent ductus arteriosus, Low-set ears, Intestinal malrotation, ... OMIM:300048
15Q Overgrowth Syndrome
Abnormality of the outer ear, Bifid uvula, Clinodactyly of the 5th finger, Micrognathia, High, na... ORPHA:314585
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Pes planus, Wide nasal bridge, Hypoplasia of the maxilla, Microcephaly, Protruding... OMIM:618302
Zimmermann-Laband Syndrome
Bifid uvula, Pes planus, Gingival fibromatosis, Micrognathia, Macroglossia, Pes cavus, Hallux val... ORPHA:3473
Xq21 Microdeletion Syndrome
Abnormality of the Achilles tendon, Conductive hearing impairment, Sensorineural hearing impairme... ORPHA:1435
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Abnormal foot morphology, Osteolytic defe... OMIM:259610
22Q11.2 Deletion Syndrome
Foot polydactyly, Small earlobe, Long philtrum, Gastrointestinal hemorrhage, Constipation, Microg... ORPHA:567
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Osteopenia, Short neck, Low-set ears, Short femoral neck, Short metacarpal, Pro... OMIM:616723
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form