Gene Summary

Name:
PDS5 cohesin associated factor B
Synonyms:
AS3,  Aprin

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.

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 148 images

Human diseases caused by Pds5b mutations

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

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

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

The table below shows human diseases predicted to be associated to Pds5b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen ova... OMIM:228520
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cryptorchidism, Ventricular hypertrophy, Death in infancy, Ulnar deviation of the hand, Cutis mar... OMIM:602613
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Sandal gap, Spina bifida occulta, High palate, Long philtrum, Pectus excavatum, ... OMIM:617877
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Oral cleft, Abnormality of the ribs, ... ORPHA:1988
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Disproportionate short-limb sho... OMIM:114290
Dysosteosclerosis
Oligodontia, Narrow chest, Natal tooth, Increased susceptibility to fractures, High palate, Micro... OMIM:224300
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Atrioventricular canal defect, Complete atrioventricular canal defec... OMIM:619142
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Disproportionate short stature, Anteverted nares, Stippled calcification proximal hume... OMIM:222765
Tarp Syndrome
Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Deep palmar crease, Hypoplasia ... OMIM:311900
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Tachypnea, Secundum atrial septal d... ORPHA:2257
Marshall-Smith Syndrome
Scoliosis, Prominence of the premaxilla, Choanal stenosis, Choanal atresia, Short distal phalanx ... OMIM:602535
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Sleep apnea, Narrow chest... ORPHA:1452
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Intest... ORPHA:1505
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multin... OMIM:108720
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Tarp Syndrome
Scoliosis, Cryptorchidism, Tongue nodules, Postaxial polydactyly, Alveolar ridge overgrowth, Cyan... ORPHA:2886
Acrodysostosis
Open bite, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognat... ORPHA:950
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Horizontal ribs, Narrow gr... OMIM:617925
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Bulbous nose, Enlarged ... ORPHA:2616
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, Bicornuate ut... ORPHA:958
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Dental crowding, High palate, Micrognathia, Long philtrum, Complete atrioventricular c... ORPHA:476126
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Mandibular prog... OMIM:223800
Cornelia De Lange Syndrome 1
Cryptorchidism, Downturned corners of mouth, Choanal atresia, Pneumonia, Cutis marmorata, Phocome... OMIM:122470
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Phocomelia, High palate, Clitoral hypertroph... OMIM:266910
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Disproportionate short-limb short stature, Narrow chest, Hypoplastic... ORPHA:85166
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Postnatal growth retardation, Short distal phalanx of finger, Ul... OMIM:210720
Holt-Oram Syndrome
Secundum atrial septal defect, Partial duplication of thumb phalanx, Absent radius, Short clavicl... OMIM:142900
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Abnormality of epiphysis morphology, Mi... ORPHA:1388
Sandestig-Stefanova Syndrome
Rocker bottom foot, Convex nasal ridge, Hypoplasia of the corpus callosum, Camptodactyly, Bilater... OMIM:618804
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Cryptorchidism, Epiphyseal stippling, Wide ant... OMIM:619135
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of ... ORPHA:93320
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Abnormal morphology of female internal genitalia, Short thorax, Hyperlordosis, Posteri... ORPHA:1797
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Long clavicles, Alveolar ridge over... OMIM:260660
Meier-Gorlin Syndrome 7
Scoliosis, Cryptorchidism, Craniosynostosis, Narrow mouth, Joint laxity, Choanal atresia, Bowing ... OMIM:617063
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Cryptorchidism, Scapulohumeral synostosis, Narrow mouth, Rhizomelia, Hypo... OMIM:602471
Monosomy 18Q
Joint hypermobility, Bulbous nose, Open mouth, Downturned corners of mouth, Choanal stenosis, Sec... ORPHA:1600
Osteoglophonic Dysplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Chordee, Mandibular ... OMIM:166250
Congenital Disorder Of Glycosylation, Type Ig
Respiratory tract infection, Hypoplasia of the radius, Short femur, Short philtrum, Cryptorchidis... OMIM:607143
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Scoliosis, Long philtrum, Short philtrum, Facial diplegia, Perisylvian polymicrogyria, Drooling, ... OMIM:619121
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Thin lower lip vermilion, Micropenis, Anal atresia, Hypospadias, Re... ORPHA:363444
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Hypoplasia of the ul... ORPHA:1972
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Narrow chest... ORPHA:96334
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Scoliosis, Epiphyseal stippling, Congenital hip dislocation, Stillbirth, Hy... OMIM:308050
Short-Rib Thoracic Dysplasia 12
Narrow chest, Natal tooth, Intestinal malrotation, Hamartoma of tongue, Horizontal ribs, Anenceph... OMIM:269860
Turnpenny-Fry Syndrome
Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, High palate, Mitral valve pro... OMIM:618371
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Hypoplasia of olfactory tract, Respi... ORPHA:140
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Micrognathia, Microcephaly, Abnormality of the dentit... ORPHA:217340
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Long philtrum, Cryptorchidism, Limited elbow f... OMIM:164745
Autosomal Dominant Omodysplasia
Long philtrum, Cryptorchidism, Ambiguous genitalia, Short nose, Bifid scrotum, Elbow dislocation,... ORPHA:93328
Cleidocranial Dysplasia
Enamel hypoplasia, Scoliosis, Narrow palate, Narrow chest, Hypoplastic frontal sinuses, Increased... OMIM:119600
Diamond-Blackfan Anemia 7
Scoliosis, Small hypothenar eminence, Esophagitis, Osteoporosis, Ventricular septal defect, Secun... OMIM:612562
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Cryptorchidism, Respiratory insufficiency, Spina bifida occulta, Abnormality of the ri... ORPHA:2311
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydac... ORPHA:440354
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death i... OMIM:184260
Momo Syndrome
Wide nasal base, Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Short neck... ORPHA:2563
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Abnormal hand bone ossification, Short nos... OMIM:200600
Smith-Mccort Dysplasia 1
Scoliosis, Multicentric femoral head ossification, Short phalanx of finger, Metaphyseal irregular... OMIM:607326
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Cerebrocostomandibular Syndrome
Scoliosis, Anomalous tracheal cartilage, Congenital hip dislocation, Postnatal growth retardation... OMIM:117650
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... OMIM:256050
Crane-Heise Syndrome
Cryptorchidism, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Hyp... ORPHA:1512
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Toot... ORPHA:1277
Ulbright-Hodes Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Postnatal growth retardation, Birth length l... ORPHA:3404
Down Syndrome
Atlantoaxial instability, Macroglossia, Joint laxity, Broad palm, Complete atrioventricular canal... OMIM:190685
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Robinow Syndrome
Scoliosis, Cryptorchidism, Dental crowding, Scrotal hypoplasia, Short distal phalanx of finger, O... ORPHA:97360
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu... ORPHA:3268
Distal Trisomy 5Q
Long philtrum, Hypoplasia of the radius, Thin vermilion border, Carious teeth, Narrow mouth, Shor... ORPHA:96097
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Cryptorchidism, Finger syndactyly, Ventricular sep... ORPHA:2256
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Narrow mouth, Anteverted nares, Narrow chest, B... ORPHA:2021
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Short neck, D... ORPHA:1832
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Thin vermilion border, Narrow mouth, Short nose, Abnormal form of the v... ORPHA:2370
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Respiratory ins... OMIM:228940
Autosomal Recessive Robinow Syndrome
Open bite, Cryptorchidism, Scoliosis, Broad thumb, Downturned corners of mouth, Elbow dislocation... ORPHA:1507
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Short fifth metatarsal, Underdeveloped nasal alae, Dysplastic sacrum, ... OMIM:134780
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Cryptorchidism, Scoliosis, Broad thumb, Dental c... OMIM:268310
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Underdeveloped nasal alae, Choanal stenosis, Lambdoidal craniosynostosis... OMIM:218600
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Shor... OMIM:187600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular... OMIM:614091
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Premature sternal synostosis, Abnormal heart morphology, Short sternum, Micrognathia OMIM:184800
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Pierre-Robin sequence, Pectus excav... OMIM:602196
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, Choanal st... OMIM:600920
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Cryptorchidism, Postaxial hand polydactyly, Tricuspid atresia, Atria... OMIM:264480
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Short nose, Depressed nasal ridge, Abnormal f... ORPHA:2831
Codas Syndrome
Enamel hypoplasia, Cryptorchidism, Scoliosis, Short phalanx of finger, Congenital hip dislocation... OMIM:600373
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Ambiguous genitalia, Short philtrum, Abnormality of the ribs, Short... ORPHA:93267
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Elbow dislocation, Micrognathia, Elbow flexion contracture, Femoral bowing, Micro... OMIM:210710
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Multiple prenatal fractures, Cardiomegaly, Multiple rib fractures, Mi... OMIM:616897
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Thin vermilion border, Craniosynostosis, Broad thumb, Short metatarsal, Short pha... OMIM:609945
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia,... ORPHA:294975
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Death ... OMIM:241800
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Hypoplasia of the ulna, Sin... OMIM:227270
Odontochondrodysplasia
Scoliosis, Delayed eruption of teeth, Platyspondyly, Short nose, Narrow chest, Square pelvis bone... ORPHA:166272
Kbg Syndrome
Long philtrum, Oligodontia, Cryptorchidism, Underdeveloped nasal alae, Anteverted nares, Thoracic... OMIM:148050
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypopla... OMIM:187601
Alagille Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Ventricular septal defect, Micrognathia, Ab... ORPHA:52
Mental Retardation, Autosomal Recessive 35
Long philtrum, Downturned corners of mouth, Everted lower lip vermilion, Hypoplasia of the ulna, ... OMIM:615162
Arthrogryposis, Distal, Type 1C
Pursed lips, Cryptorchidism, Thin vermilion border, Scoliosis, Narrow mouth, Wrist flexion contra... OMIM:619110
Multiple Osteochondromas
Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Abnormality of the metaphysis, Ost... ORPHA:321
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Everted lower lip vermilion, Hypoplasia of the ulna, Thick nasal alae, Thin upper ... ORPHA:357175
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Long philtrum, Lateral clavicle hook, Radioulnar ... OMIM:171480
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Micrognathia, Ulnar bowing, Femoral... OMIM:211350
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Cryptorchidism, Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia... OMIM:612447
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Thoraci... OMIM:616716
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Short neck, Taurodontia, Short sternum, Large hands, Sm... OMIM:157980
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Natal tooth, Choanal atresia, Hemivertebrae, Mesoaxial foot... OMIM:146510
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Bulbous nose, Tongue nodules, Pectus excavatum, Short sternum, Kyphos... OMIM:258850
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Convex nasal ridge, Apnea, Pectus carinatum, Secundum atrial septal defect, ... OMIM:609069
Ring Chromosome 12 Syndrome
Symphalangism of the thumb, Cryptorchidism, Glandular hypospadias, Secundum atrial septal defect,... ORPHA:1439
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Thin vermilion border, Cryptorchidism, Short neck, Narrow mouth, Bulbous nose... OMIM:618766
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Generalized bone demineralization, Short phalanx of finger, S... OMIM:143095
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Hypermobility of i... ORPHA:508498
Non-Distal Trisomy 10Q
Scoliosis, Convex nasal ridge, Cryptorchidism, Short nose, Joint hyperflexibility, Everted lower ... ORPHA:1695
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication... OMIM:616331
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Scoliosis, Long philtrum, Osteoporosis, Short nose, Downturned corners of mouth, Open mouth, Rest... OMIM:615398
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hypertension, C... OMIM:309350
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Postnatal growth retardation, Triangular mouth, Cerebral hypoplasia, Short neck, ... OMIM:257300
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Wide nasal base, Cryptorchidism, Craniosynostosis, Bifid scrotu... ORPHA:3134
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Filippi Syndrome
Cryptorchidism, Thin vermilion border, Short philtrum, Ambiguous genitalia, Abnormality of dental... OMIM:272440
3C Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Death in infancy, Intestinal malrotation, Postna... ORPHA:7
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Short nose, Abnormal vertebral morphology, Thin upper lip vermilion, Short stature, C... ORPHA:2015
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Choanal stenosis, Scrotal hypoplasia, Postnatal growth retardati... OMIM:269150
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Abnormal sternum morphology, Scrot... ORPHA:2990
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Cryptorchidism, Short neck, Lambdoidal craniosynostosis, Bifid ... OMIM:312830
Distal Monosomy 17Q
Short thorax, Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypop... ORPHA:1597
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Postnatal growth retardation, Hemivertebrae, Micropenis, Widely-spaced maxillary ... OMIM:301040
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Elbow dislocation, Respiratory insufficiency, Abnormality of the metac... ORPHA:628
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of ... OMIM:277150
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Postnatal growth retardation, Hem... OMIM:213980
Cog1-Cdg
Irregularity of vertebral bodies, Narrow mouth, Postnatal growth retardation, Flat acetabular roo... ORPHA:263508
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Ambiguous genitalia, Lateral clavicle hook, Respiratory ... OMIM:617895
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Aplasia/Hypoplasia of the cerebellum, Abnormality of the philtrum, Dow... ORPHA:280
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Bicornuat... OMIM:263650
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Hemivertebrae, Bicornuate uterus, High palate, Micrognat... OMIM:200980
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Narrow mouth, Short nose, Ventricular septal defect, High palate, ... ORPHA:261120
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Hallux valgus, Hypoplasia of the maxilla, Narrow nose... OMIM:101400
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, High pa... OMIM:614399
Zttk Syndrome
Scoliosis, Joint hypermobility, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned... OMIM:617140
Coffin-Siris Syndrome 1
Scoliosis, Cryptorchidism, Joint laxity, Intestinal malrotation, Choanal atresia, Postnatal growt... OMIM:135900
Temple Syndrome
Scoliosis, Cryptorchidism, Short philtrum, Joint hypermobility, Decreased testicular size, Flexio... OMIM:616222
Postaxial Acrofacial Dysostosis
Cryptorchidism, Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Ra... OMIM:263750
Schneckenbecken Dysplasia
Cryptorchidism, Lateral clavicle hook, Disproportionate short-limb short stature, Short neck, Adv... ORPHA:3144
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Amelogenesis imperfecta, Short neck, Broad ribs, Biconcave vertebral bodies, Rhizomeli... OMIM:610319
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Restrictive ventilatory defect, Situs inversus totalis, Rib fusion, Vertebral segme... OMIM:613686
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Narrow chest, Joint laxity, Phalangeal dislocation, Br... OMIM:251450
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Disproportionate short stature, Narrow chest, Meso... ORPHA:1354
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Horizontal ribs, S... OMIM:613091
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Thin vermilion border, Everted lower lip vermilion, Pectus excavatum, Growth delay, Smooth philtr... ORPHA:73273
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Hypoplasia of the... OMIM:600123
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Porencephalic cyst, Type I truncus arteriosus, Secundum... OMIM:156810
Omodysplasia 1
Cryptorchidism, Anterolateral radial head dislocation, Increased fibular diameter, Pulmonary arte... OMIM:258315
Hydrolethalus Syndrome 1
Bifid uterus, Anencephaly, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Preaxial h... OMIM:236680
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Downturned corners of mouth, Narrow chest, Abnormal cardiac septum morphology, Mi... OMIM:217980
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Hypoplastic scapula... ORPHA:93333
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Proportionate short stature, Short distal phalanx o... ORPHA:79345
Chromosome 3Pter-P25 Deletion Syndrome
Long philtrum, Thin vermilion border, Cryptorchidism, Downturned corners of mouth, Anteverted nar... OMIM:613792
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk short stature, Micrognathia, Fifth... ORPHA:2839
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Cutaneous syndactyly of toes, Cryptorchidism, Contracture of the proxi... ORPHA:2872
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Cryptorchidism, Craniosynostosis, Tarsal synostosis, Narrow mouth, Choanal stenosis, B... ORPHA:95699
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Camptodactyly, Postnatal growth retardation, Abnormality of the ribs, ... OMIM:611209
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Narrow mouth, Microretrognathia, Secundum atrial septal defec... OMIM:616866
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Congenital Disorder Of Glycosylation, Type Iu
Scoliosis, Short nose, Cerebral white matter atrophy, Respiratory distress, Death in infancy, Con... OMIM:615042
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Narrow mouth, Sprengel anomaly, Respiratory insufficiency, Short ... ORPHA:2901
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Secundum atrial septal defect, Hypoplasia of the corpus callosum, Cerebellar v... OMIM:615802
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Short neck, Micropenis, Wide nose, Recurrent ... OMIM:300209
Intellectual Developmental Disorder, Autosomal Recessive 72
Wide nasal base, Long philtrum, Secundum atrial septal defect, Narrow nasal base, Thin upper lip ... OMIM:618665
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, High, narrow palate, Micrognathia, Elbow flexion contracture, Hyp... ORPHA:536516
Tetrasomy 9P
Cryptorchidism, Abnormal dental enamel morphology, Bulbous nose, Downturned corners of mouth, Den... ORPHA:3310
Acromicric Dysplasia
Long philtrum, Abnormality of femur morphology, Narrow mouth, Bulbous nose, Abnormality of epiphy... ORPHA:969
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Phocomelia, Micrognathia, Genu varum, Cleft palate, Tetral... ORPHA:3320
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short thorax, Short metatarsal, Short phalanx of finger, Narrow chest, Respiratory... OMIM:617102
Achondrogenesis Type 1B
Long philtrum, Short thorax, Disproportionate short stature, Short neck, Short nose, Narrow chest... ORPHA:93298
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Hypoplasia of the corpus callosum, Abnormal pa... ORPHA:1495
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Mandibular prognathia, Oral cleft, Split foot, Microce... ORPHA:3434
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress, Narrow chest, Flared elbow metaphyses, Generalized osteoscler... ORPHA:1423
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Macroglossia, Hypoplastic scapulae, Kyphosis, Oral cleft, Death in early adulthood, Sh... ORPHA:79107
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Narrow chest, Short distal phalanx of finger, High palate, High,... OMIM:218330
Achondrogenesis Type 1A
Long philtrum, Short thorax, Short neck, Short nose, Narrow chest, Abnormal enchondral ossificati... ORPHA:93299
C Syndrome
Scoliosis, Cryptorchidism, Cutis laxa, Clitoral hypertrophy, High palate, Micrognathia, Dislocate... OMIM:211750
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large iliac wing, Increased bone mineral density, Cerebral calcification, Spina bifida... ORPHA:2780
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Bicornuate uterus, Absent radius, Triphalangeal thumb, Micrognathia, Hypoplasia of fir... OMIM:154400
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Narrow mouth, Ventricular septal defect,... ORPHA:3469
Cardiospondylocarpofacial Syndrome
Scoliosis, Long philtrum, Tarsal synostosis, Joint laxity, Anteverted nares, Cone-shaped epiphysi... OMIM:157800
Arthrogryposis, Distal, Type 3
Cryptorchidism, Arthrogryposis multiplex congenita, Short phalanx of finger, Congenital hip dislo... OMIM:114300
Brachydactyly Type A1
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis... ORPHA:2319
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Th... ORPHA:457395
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Ventricular septal defect, Micrognathia, Respiratory insufficiency, Tooth agenesi... ORPHA:1166
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Bulbous nose, Thoracic kyphosis, Pectus excavatum, Short sternum, Ham... ORPHA:2752
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Atrial septal defect, Hand polydactyly, Craniosynostosis, Abnormal vertebral morpholog... ORPHA:261197
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Short nose, Depressed nasal ridge, Hypoplas... ORPHA:1248
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Narrow chest, Mandibular prognathia, Short ... ORPHA:1327
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Scoliosis, Carpal bone hypoplasia, Mandibular progna... OMIM:304950
Pierpont Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Broad philtrum, Prominent fingertip pads, Micro... OMIM:602342
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Kyphosis, 2-3 toe syndactyly, Microcephaly, Thick vermilion border, ... OMIM:617061
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Convex nasal ridge, Short philtrum, Thin vermilion border, Pl... OMIM:156510
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Camptodactyly, Agenesis of maxillary ... OMIM:311450
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Atrial septal defect, Ventricular septal defect,... OMIM:608406
Microphthalmia, Syndromic 3
Cryptorchidism, Postnatal growth retardation, Hemivertebrae, Anterior pituitary hypoplasia, Super... OMIM:206900
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Sh... OMIM:609813
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Wide nasal bridge, Clinodactyly of the 5th... ORPHA:1352
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Joint laxity, Flat acetabular roof, Patent foramen ovale, Clinodactyly of the 2nd fing... OMIM:618870
Duane-Radial Ray Syndrome
Scoliosis, Choanal stenosis, Choanal atresia, Sandal gap, Absent radius, Short thumb, Spina bifid... OMIM:607323
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Bulbous nose, Short nose, Ventricular septal defec... OMIM:613458
Recombinant Chromosome 8 Syndrome
Scoliosis, Cryptorchidism, Downturned corners of mouth, Camptodactyly, Postnatal growth retardati... OMIM:179613
Moebius Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Short phalanx of finger, Split h... OMIM:157900
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Narrow chest, Joint laxity, Global brain atrophy, Branchial cyst, Lon... ORPHA:508488
Neurofibromatosis-Noonan Syndrome
Scoliosis, Cubitus valgus, Cryptorchidism, Prominent nasolabial fold, Secundum atrial septal defe... OMIM:601321
Metatropic Dysplasia
Scoliosis, Narrow chest, Aplasia/Hypoplasia of the lungs, Joint stiffness, Abnormality of the rib... ORPHA:2635
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Pectus excavatum, Short stature, I... ORPHA:1937
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Camptodactyly, Agenesis of maxillary central in... ORPHA:2804
Occipital Horn Syndrome
Joint laxity, Narrow chest, Short clavicles, High palate, Osteoporosis, Limited elbow extension, ... OMIM:304150
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Widely spaced teeth, Hypoplasia of the corpus callosum, Mandibular prognath... OMIM:618006
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Broad thumb, Enlarged thorax, Broad hallux phalanx, Pulmon... ORPHA:251071
Cornelia De Lange Syndrome 5
Cryptorchidism, Thin vermilion border, Downturned corners of mouth, Postnatal growth retardation,... OMIM:300882
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Malrotation of small bowel, Downturned corners of mouth, Split hand, O... OMIM:194190
Branchiooculofacial Syndrome
Cryptorchidism, Premature graying of hair, Branchial anomaly, Postnatal growth retardation, Agene... OMIM:113620
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Microcephaly-Micromelia Syndrome
Craniosynostosis, Narrow mouth, Narrow chest, Forearm undergrowth, Absent radius, Abnormality of ... OMIM:251230
Seckel Syndrome 1
Enamel hypoplasia, Cryptorchidism, Scoliosis, Dental crowding, Proportionate short stature, Postn... OMIM:210600
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, High palate, Short 5th finger, ... OMIM:300577
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Thin vermilion border, Carious teeth, Short nose, Anteverted nares, Abnormality o... ORPHA:2701
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Talipes equinovarus, Agenesis of corpus callosum, Aspiration, Flexion contracture, Thick vermilio... OMIM:618651
Distal Monosomy 1Q
Thin vermilion border, Aplasia/Hypoplasia of the corpus callosum, Smooth philtrum, Short stature,... ORPHA:36367
Congenital Disorder Of Glycosylation, Type Iy
Scoliosis, Respiratory distress, Hypoplasia of the corpus callosum, Wide mouth, Clinodactyly, Hyp... OMIM:300934
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Scoliosis, Oligodontia, Joint hypermobility, Dental crowding, Postnatal growth... OMIM:619184
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Abnormal... ORPHA:1150
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Hypoplasia of the corpus callosum, C... OMIM:614261
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Narrow chest, Thoracic kyphos... ORPHA:163649
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Narrow chest, Dysplastic sacrum, Hypoplastic ischia, Iliac crest serration, Cardiomegaly, Pulmona... OMIM:613320
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Aplasia/Hypoplasia of t... ORPHA:776
Warburg Micro Syndrome 1
Osteoporosis, Cryptorchidism, Thin vermilion border, Joint hypermobility, Perisylvian polymicrogy... OMIM:600118
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Broad thumb, Narrow mouth, Dental crowding, Postnatal growth retardation, Increas... ORPHA:251028
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Absent proximal radial epiphyses, Forearm undergrowth, Elbow flexion cont... OMIM:249600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, High palate, Short femoral neck, Flat capital femoral epip... OMIM:612350
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Deep ph... ORPHA:2878
Perching Syndrome
Respiratory distress, Camptodactyly, Flexion contracture, High palate, Depressed nasal bridge OMIM:617055
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Joint hypermobility, Broad thumb, Drooling, Micrognathia, Growth delay, Abnormal c... ORPHA:576283
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Craniosynostosis, Short nose, Finger syndactyly, Split hand, Malar flattening... ORPHA:2145
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow chest, Intestinal m... OMIM:215140
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:314390
Fetal Trimethadione Syndrome
Scoliosis, Ambiguous genitalia, Atrial septal defect, Short nose, Ventricular septal defect, Bila... ORPHA:1913
Achondrogenesis
Long philtrum, Short thorax, Short neck, Short nose, Narrow chest, Abnormal enchondral ossificati... ORPHA:932
Pierpont Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Joint laxity, Broad philtrum, Prominent fingert... ORPHA:487825
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Cryptorchidism, Narrow mouth, Narrow chest, Respiratory insufficiency, Hypop... ORPHA:1865
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Narrow mouth, Underdeveloped nasal alae, Choanal stenosis, Postnatal growth retar... ORPHA:83617
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Cryptorchidism, Hand polydactyly, Hemiatrophy... ORPHA:1350
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad thumb, Broad nasal tip, Anteverted nares, Short nose, Camptodactyly, Mesomel... OMIM:618529
Trisomy 4P
Scoliosis, Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, C... ORPHA:1738
Dystonia, Juvenile-Onset
Kyphoscoliosis, Hypoplastic scapulae, Cleft upper lip, Cleft palate OMIM:607371
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Rib fusion, Severe short stature, Back pain, Hemivertebrae, Vertebral fusion, D... OMIM:277300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal ... ORPHA:163966
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... OMIM:249700
Mental Retardation, Buenos Aires Type
Carious teeth, Atrial septal defect, Partial agenesis of the corpus callosum, Pectus carinatum, C... OMIM:249630
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Scoliosis, Cryptorchidism, Narrow mouth, Dental crowding, Camptodactyly, Mandibular prognathia, D... OMIM:300998
Cardioacrofacial Dysplasia 2
Genu valgum, Short philtrum, Postaxial hand polydactyly, Narrow chest, Atrioventricular canal def... OMIM:619143
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Platyspondyly, Joint laxity, Metaphyseal irregularity, Carpal ... OMIM:618395
Fanconi Anemia
Scoliosis, Cryptorchidism, Choanal atresia, Bicornuate uterus, High palate, Triphalangeal thumb, ... ORPHA:84
Aicardi Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Prominence of the premaxilla, Optic disc colobom... ORPHA:50
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Myhre Syndrome
Cryptorchidism, Thin vermilion border, Large iliac wing, Narrow mouth, Mandibular prognathia, Gin... ORPHA:2588
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... OMIM:618363
Cerebrofaciothoracic Dysplasia
Scoliosis, Macrocephaly, Short nose, Narrow chest, Hypoplasia of the corpus callosum, Sprengel an... ORPHA:1394
Ivic Syndrome
Scoliosis, Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Rectovaginal f... OMIM:147750
Diaphanospondylodysostosis
Respiratory insufficiency, Missing ribs, Unossified sacrum, Short neck, Micrognathia, Depressed n... OMIM:608022
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Craniosynostosis, Oral cleft, Forearm undergrowth, Lower limb undergrowth, Mi... OMIM:218650
Mcdonough Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Ventricular septal defect, Pectus carinatum... OMIM:248950
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Cryptorchidism, Short philtrum, Atrial septal defect, Arthrogryposis multiplex congeni... ORPHA:352490
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Flexion contracture, Death in infancy, Cerebral atrophy, Intrauterine grow... OMIM:608540
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Short lower limbs, Abnormality of fibular epiphyses, Rhizomelic ar... ORPHA:96190
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimuation ... OMIM:220210
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Cryptorchidism, Facial diplegia, Scoliosis, Short neck, Arthro... OMIM:611890
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, Sandal gap, Patent foramen ovale, High palate, Micrognathia, Long philtrum, Hypopla... OMIM:270450
Aicardi Syndrome
Scoliosis, Prominence of the premaxilla, Postnatal growth retardation, Hemivertebrae, Dilated thi... OMIM:304050
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Growth delay, Cerebral atrophy, Wide nasal bridge, Thin upp... OMIM:615583
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Malar flattening, Fibular hypoplasi... OMIM:608571
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Disproportionate short stature, Narrow... ORPHA:1801
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Cryptorchidism, Atrial septal defect, 2-3 toe syndactyly, Microcephaly, Wide... ORPHA:3304
Mosaic Trisomy 14
Camptodactyly of finger, Cryptorchidism, Short neck, Narrow chest, Wide mouth, Bilateral single t... ORPHA:1703
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Short finger, Severe short stature, Death in childhood, Microcephaly, Tapered finger OMIM:302000
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Intestinal malrotation, Peripheral pu... ORPHA:2712
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Atrial septal defect, Narrow mouth, Underdeveloped nasal a... OMIM:608572
Rhizomelic Syndrome, Urbach Type
Abnormality of the elbow, Short distal phalanx of finger, High palate, Triphalangeal thumb, Short... ORPHA:3098
Yunis-Varon Syndrome
Cryptorchidism, Thin vermilion border, Slender long bones with narrow diaphyses, Postnatal growth... ORPHA:3472
20P12.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Broad thumb, Narrow mouth, Hypoplasia of the maxilla, Pectus... ORPHA:261295
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Abnormal fo... ORPHA:2759
Autosomal Recessive Omodysplasia
Long philtrum, Hypoplastic distal humeri, Cryptorchidism, Craniosynostosis, Short nose, Elbow dis... ORPHA:93329
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Finger syndactyly, Upper limb asymmetry, Aplasi... ORPHA:2141
Teebi Hypertelorism Syndrome
Long philtrum, Atrial septal defect, Craniosynostosis, Short nose, Dental crowding, Broad palm, V... OMIM:145420
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Cryptorchidism, Toe syndactyly, Radioulnar synostosis, Shor... ORPHA:171839
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... ORPHA:1458
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Abnormality of the vertebral column, Abnor... OMIM:184705
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Narrow chest, Joint ... OMIM:615777
Meier-Gorlin Syndrome 1
Cryptorchidism, Absent glenoid fossa, Narrow mouth, Joint laxity, Elbow dislocation, Camptodactyl... OMIM:224690
2Q32Q33 Microdeletion Syndrome
Thin vermilion border, Oligodontia, Broad thumb, Narrow mouth, Dental crowding, Broad hallux phal... ORPHA:251019
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypoplasia of the brainstem, Thin vermilion border, Arthrogryposis multiplex congenita, Bulbous n... OMIM:618622
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Disproportionate short-limb short s... OMIM:600121
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Long philtrum, Cryptorchidism, Truncus arteriosus, Short nose, Atrial sep... ORPHA:401935
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Dental crowding, Camptodactyly, Intestinal malrotation,... OMIM:617602
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Atrial septal defect, Short nose, Hypoplasia of the corpu... OMIM:300887
Ruvalcaba Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Narrow mouth, Narrow chest, Dental crowding, Ab... ORPHA:3121
Catel-Manzke Syndrome
Cryptorchidism, Joint laxity, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of ... OMIM:616145
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna, Non... ORPHA:246
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Short neck, Underdeveloped nasal alae, Ventricular septal defect, Bilateral s... ORPHA:2516
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Hypoplasia of the brainstem, Oligodontia, Narrow mouth, Hypoplasia of teeth, Downturne... ORPHA:391408
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Abnormality of the scrotum, Pectus carinatum, Pectus ... ORPHA:64755
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Thin vermilion border, Long philtrum, Arthrogryposis multiplex ... OMIM:214150
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Cryptorchidism, Short metatarsal, Short phalanx of finger, Un... OMIM:180870
Holt-Oram Syndrome
Scoliosis, Broad thumb, Split hand, Abnormality of the metacarpal bones, Joint stiffness, Phocome... ORPHA:392
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Scoliosis, Cryptorchidism, Slender nose, Decreased motor nerve conduction velocity, Short nose, P... OMIM:615419
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... ORPHA:56304
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
Roifman Syndrome
Downturned corners of mouth, Underdeveloped nasal alae, Postnatal growth retardation, Short digit... OMIM:616651
Cornelia De Lange Syndrome 2
Prominent nasal bridge, Short neck, Downturned corners of mouth, Anteverted nares, Microcephaly, ... OMIM:300590
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Natal tooth, 3-4 finger cutaneous syndactyly, Supernumerary metacarp... ORPHA:672
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Craniosynostosis, Ventricular septal defect, Cerebellar vermis hypoplasia, Abnormality of the den... OMIM:616901
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Recurrent upper respiratory tract infect... ORPHA:508542
Craniodiaphyseal Dysplasia
Macrocephaly, Craniofacial hyperostosis, Wide nasal bridge, Short stature, Abnormality of the rib... ORPHA:1513
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Elbow dislocation, Abnormall... OMIM:201250
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Coug... ORPHA:96170
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Obstructive sleep apnea, Ventricular septal defect, Rhizomelia, 2-3 toe syndactyly, Scrotal hypop... OMIM:617164
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Narrow mouth, Short nose, Short foot, Wide nasal bridge, Cleft palate, Sh... OMIM:614078
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Respiratory i... OMIM:601559
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Cryptorchidism, Short neck, Short nose, Abnormality of de... ORPHA:1716
3P25.3 Microdeletion Syndrome
Scoliosis, Broad thumb, Cerebral white matter atrophy, Downturned corners of mouth, Mandibular pr... ORPHA:435638
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Broad hallux phalanx, Hypoplasia of the... ORPHA:2249
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, Shield chest, Enlarged thorax, Postnatal growth retardation, Delayed puberty, High pal... ORPHA:99413
Mosaic Monosomy X
Scoliosis, Shield chest, Enlarged thorax, Postnatal growth retardation, Delayed puberty, High pal... ORPHA:99228
Monosomy X
Scoliosis, Shield chest, Enlarged thorax, Postnatal growth retardation, Delayed puberty, High pal... ORPHA:99226
Turner Syndrome
Scoliosis, Shield chest, Enlarged thorax, Postnatal growth retardation, Delayed puberty, High pal... ORPHA:881
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Ovoid vertebral bodies, Delayed calcaneal ossification, Limitation of knee mobility, N... OMIM:183900
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Short nose, Anteverted nares, Narrow chest, Beaking of... OMIM:618961
Craniofaciofrontodigital Syndrome
Cubitus valgus, Long philtrum, Joint hypermobility, Short neck, Short nose, Broad ribs, Hypoplast... OMIM:114620
Tetralogy Of Fallot
Cryptorchidism, Thin vermilion border, Intrauterine growth retardation, Tetralogy of Fallot, Clin... ORPHA:3303
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Prematurely aged appearance, Mandib... ORPHA:2658
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Scoliosis, Cryptorchidism, Broad thumb, High palate, Short neck, Long philtrum, Hypoplasia of the... OMIM:617452
Chromosome 19Q13.11 Deletion Syndrome, Distal
Cryptorchidism, Thin vermilion border, Carious teeth, Underdeveloped nasal alae, Postnatal growth... OMIM:613026
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormality of the elbow, Respiratory insufficiency, Short neck, Abnormal thumb mor... ORPHA:1842
Filippi Syndrome
Cryptorchidism, Thin vermilion border, Underdeveloped nasal alae, Bilateral single transverse pal... ORPHA:3255
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Atrial septal defect, Short nose, Respiratory distress, Ventricular se... OMIM:610536
Diamond-Blackfan Anemia 1
Narrow chest, Partial duplication of thumb phalanx, Short thumb, High palate, Micrognathia, Triph... OMIM:105650
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Spondylocostal Dysostosis 2, Autosomal Recessive
Restrictive ventilatory defect, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... OMIM:608681
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Scoliosis, High palate, Long philtrum, Cavum septum pellucidum, Respiratory distress, Pectus cari... OMIM:619383
Tetrasomy 5P
Lipoma of corpus callosum, Postnatal growth retardation, Pulmonary arterial hypertension, High pa... ORPHA:3309
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Carious teeth, Craniosynostosis, Phalangeal dislocation, Slender ... ORPHA:536467
Coffin-Siris Syndrome 5
Short philtrum, Atrial septal defect, Thick lower lip vermilion, Hypoplasia of the corpus callosu... OMIM:616938
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Narrow mouth, Bulbous nose, Death in infancy, Wide nasal bridge, Short stat... ORPHA:93946
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Joi... ORPHA:439822
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Joint laxity, Metaphyseal irregularity, Narrow greater sciatic notch, Dela... OMIM:602557
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Scoliosis, Short philtrum, Atrial septal defect, Thick lower lip vermilion, Ventricular septal de... OMIM:608227
Coffin-Siris Syndrome 10
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Laryngomalacia, Clinodactyly... OMIM:618506
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Atrial septal defect, Agenesis of corpus callosum, Respiratory distress, Micr... ORPHA:89844
Congenital Disorder Of Glycosylation, Type Ie
Upper limb undergrowth, Respiratory distress, Camptodactyly, Ankle flexion contracture, Smooth ph... OMIM:608799
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Macrocephaly, Bulbous nose, Anteverted nares, Cutan... ORPHA:2180
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Short philtrum, Joint hypermobility, Narrow mouth, Pyloric stenosis, P... ORPHA:96184
Ellis-Van Creveld Syndrome
Cryptorchidism, Narrow chest, Natal tooth, Horizontal ribs, Cone-shaped epiphyses of phalanges 2 ... OMIM:225500
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Facial diplegia, Choanal stenosis, Craniofacial hyperostosis,... OMIM:122860
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Ambiguous genitalia, Atrial septal defect, Ventricular septal defect, Preaxi... OMIM:618142
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow dislocation, Elbow ankylosis, Hypoplas... ORPHA:2557
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormal cranial nerve morphology, Abnormality of the vertebral column, Ventricular se... ORPHA:2345
Zechi-Ceide Syndrome
Thin vermilion border, Oligodontia, Short metatarsal, Short philtrum, Downturned corners of mouth... ORPHA:217017
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... OMIM:249710
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Pierre-Robin sequence, Morbus Scheuermann, Pectus excavatum, Kyphosis, ... OMIM:108300
Mucopolysaccharidosis Type 4
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the r... ORPHA:582
Melnick-Needles Syndrome
Scoliosis, Narrow chest, Respiratory insufficiency, Short distal phalanx of finger, Short clavicl... ORPHA:2484
Aarskog-Scott Syndrome
Scoliosis, Cryptorchidism, Mild short stature, Joint laxity, Delayed puberty, Cervical spine hype... OMIM:305400
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Hypodo... ORPHA:3201
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Cryptorchidism, Narrow mouth, Short nose, Ventricular septal defect, Hypoplasia of... OMIM:613457
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Short nose, Abnormal periventricular white matter morphology, Cerebral white matter at... ORPHA:329178
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Thoracic hypoplasia, Limb undergrowth, Short long bone, Dep... ORPHA:221054
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Ellis Van Creveld Syndrome
Cryptorchidism, Thin vermilion border, Narrow chest, Short distal phalanx of finger, Dextrocardia... ORPHA:289
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Choanal atresia, High, narrow palate, Micrognathia... ORPHA:2409
Fetal Alcohol Syndrome
Atrial septal defect, Biparietal narrowing, Short nose, Smooth philtrum, Non-midline cleft lip, V... ORPHA:1915
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Short neck, Bulbous nose, Growt... OMIM:616809
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Broad thumb, Joint laxity, Open mouth, Dental crowding, High palate, Micrognathia, Hypoplasia of ... OMIM:309520
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Elbow dislocation, Flared ... ORPHA:90652
Ulnar-Mammary Syndrome
Short 4th toe, Anterior pituitary hypoplasia, Delayed puberty, Absent radius, Short clavicles, Sh... OMIM:181450
Arthrogryposis, Distal, Type 2A
Pursed lips, Cryptorchidism, Scoliosis, Hypoplasia of the brainstem, Restricted neck movement due... OMIM:193700
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Micro... OMIM:274000
Nicolaides-Baraitser Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Sandal gap, Abnormality of the metacarpal bones... ORPHA:3051
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Back pain, Lumbar hyperlordos... OMIM:169550
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Long philtrum, Cryptorchidism, Craniosynostosis, Finger syndactyly, Hypo... ORPHA:178303
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Joint stiffness, ... ORPHA:93307
Radio-Renal Syndrome
Convex nasal ridge, Hypoplasia of the radius, Short neck, Respiratory distress, Downturned corner... ORPHA:3015
Stickler Syndrome Type 1
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Anteverted nares, Ventricular septal defect, Intrauterine growth re... OMIM:612938
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Thin vermilion border, Bulbous nose, Small hand, Short stature, Short foot, Intra... ORPHA:261483
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Narrow mouth, Short distal phalanx of finger... OMIM:311300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Thin vermilion border, Downturned corners of mouth, Proportionate short stat... ORPHA:500150
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Kagami-Ogata Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the maxilla, Flexio... OMIM:608149
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Craniosynostosis, Narrow mouth, Elbow dislocation, Clitoral hypoplasia, Abnormali... ORPHA:2554
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Ventricular septal defect, Short middle ... OMIM:113000
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Short thorax, Atr... ORPHA:2655
Charge Syndrome
Scoliosis, Cryptorchidism, Choanal atresia, Postnatal growth retardation, Hemivertebrae, Delayed ... OMIM:214800
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Scoliosis, Postaxial polysyndactyly of foot, Abnormality of the philtrum, High... ORPHA:2919
Zimmermann-Laband Syndrome 3
Broad nasal tip, Thick lower lip vermilion, Absent distal phalanx of the 2nd toe, Kyphosis, Flexi... OMIM:618658
Maternal Uniparental Disomy Of Chromosome X
Scoliosis, Cubitus valgus, Rocker bottom foot, Thin vermilion border, Camptodactyly of finger, Am... ORPHA:261519
Chung-Jansen Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Cryptorchidism, Short nose, Anteverted nare... OMIM:617991
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification... OMIM:271665
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Ambiguous genitalia, Abnormality of the philtrum, Microretrognathia... ORPHA:276422
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, Spina bifida occu... OMIM:300373
Chromosome 18Q Deletion Syndrome
Scoliosis, Cryptorchidism, Joint laxity, Downturned corners of mouth, Choanal stenosis, Mandibula... OMIM:601808
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Dyspnea, Respiratory distress, Clitoral hypertrophy, Growt... ORPHA:2707
Grant Syndrome
Open bite, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Abnormal palat... ORPHA:2097
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Short ... ORPHA:63446
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Rocker bottom foot, Respiratory distress, Abnormal heart morphology, Flexion contractu... ORPHA:1143
Renpenning Syndrome
Narrow mouth, Mandibular prognathia, Joint stiffness, Abnormality of the ribs, Decreased testicul... ORPHA:3242
Oculoauriculofrontonasal Syndrome
Scoliosis, Narrow mouth, Underdeveloped nasal alae, Ventricular septal defect, Lipoma of corpus c... ORPHA:398156
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral neck, Short nec... OMIM:300232
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal cranial nerve morphology, ... ORPHA:1782
Loeys-Dietz Syndrome 5
Joint hypermobility, Patent foramen ovale, High palate, Osteoarthritis, Congenital finger flexion... OMIM:615582
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Ventricular septal defect, Death in infancy, Jaundice, Glossoptosis OMIM:614876
17Q23.1Q23.2 Microdeletion Syndrome
Scoliosis, Narrow mouth, Bulbous nose, Bilateral single transverse palmar creases, Sandal gap, Lo... ORPHA:261279
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Short nose, Short columella, Short distal phalanx of finger, Dent... OMIM:155050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Growth delay, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchi... OMIM:614069
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Vertebral segmentation defect, Oral cleft, Apla... ORPHA:3186
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Cryptorchidism, Downturned corners of mouth, Intestinal malrotation, Postaxial polydac... ORPHA:404440
19P13.3 Microduplication Syndrome
Hip subluxation, Narrow mouth, Underdeveloped nasal alae, Pulmonary arterial hypertension, Microg... ORPHA:447980
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Joint hypermobility, Narrow mouth, Downturned corners of mouth, Natal tooth, Prom... ORPHA:3455
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplasia of the cerebellum, Ventricular septal def... ORPHA:2772
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Ventricular hypertrophy, Atrial septal defect, Mitral valve prolapse, Ventri... OMIM:612561
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Postaxial hand polydactyly, Complete atrioventricular canal defect, Hamart... OMIM:217085
Coffin-Siris Syndrome 6
Short philtrum, Atrial septal defect, Broad nasal tip, Deep philtrum, Pectus excavatum, Clinodact... OMIM:617808
Prader-Willi Syndrome Due To Translocation
Scoliosis, Carious teeth, Downturned corners of mouth, Anterior pituitary hypoplasia, Cerebral co... ORPHA:177907
Kbg Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Short neck,... ORPHA:2332
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislo... OMIM:304120
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Cryptorchidism, Broad thumb, Short phalanx of finger, Downturned corners of mouth, Hyp... OMIM:616894
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Atrial septal defect, Agenesis of corpus callosum, Patent foramen ovale... OMIM:609053
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Fragi... OMIM:271640
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... ORPHA:391646
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Sandal gap, Intrauterine growth retardation, Short stature, Dilated ca... ORPHA:2515
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Cerebral cortical atrophy, High palate, Short neck, Wide ... ORPHA:505237
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Long philtrum, Short nose, Kyphosis, Delayed puberty, High palate, Micrognathia, Micro... ORPHA:2598
Infantile-Onset X-Linked Spinal Muscular Atrophy