Gene: Cenpj MGI:2684927

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Gene Summary

Name:
centromere protein J
Synonyms:
4932437H03Rik,  Sas4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hypoactivity Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.89×10-07
abnormal tail movements Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.77×10-07
vertebral fusion Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 3.72×10-05
abnormal tail morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.63×10-11
increased circulating potassium level Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 3.93×10-10
abnormal tibia morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 6.35×10-14
decreased body length Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 0.00
abnormal vertebrae morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.89×10-07
abnormal behavior Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 1.60×10-16
abnormal head morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 3.22×10-10
abnormal cranium morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.13×10-09
decreased body weight Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 6.66×10-23
abnormal external female genitalia morphology Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 2.43×10-14
abnormal external male genitalia morphology Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 8.97×10-06
decreased lean body mass Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 1.84×10-05
abnormal humerus morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.56×10-13
abnormal ulna morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.47×10-05
abnormal joint morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.03×10-12
increased total body fat amount Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 2.73×10-06
increased circulating amylase level Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.76×10-05

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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 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 66.67% (2 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 33.33% (1 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
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.

Histopathology

Images

9 Images

Legacy Phenotype Associated Images

View all 197 images

View all 16 images

View all 6 images

View all 6 images

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Elbow dislocation, Short neck, Elbow flexion contracture, Femoral bowing, Micrope... OMIM:210710
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Congenital hip dislocation, Radioulnar... ORPHA:3269
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Tarsal synostosis, C2-C3 subluxation, Abnormality of pelvic girdle bone morphology, Sh... OMIM:272460
Kyphomelic Dysplasia
Radial bowing, Platyspondyly, Anterior rib cupping, Disproportionate short stature, Short femur, ... OMIM:211350
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Trisomy 13
Scoliosis, Cryptorchidism, Iris coloboma, Patent ductus arteriosus, Bilateral single transverse p... ORPHA:3378
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... ORPHA:93320
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Camptodactyly, Aplasia/Hypoplasi... OMIM:113000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Epicanthus, Synoph... ORPHA:3268
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Abnormality iris morphology, Toe syndactyly, Growth delay, Cataract, Sma... ORPHA:1617
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Platyspondyly, Femoral bowing, Flared iliac wing, Ulnar b... OMIM:602111
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Neutropenia, Short thumb, Patent foramen ova... OMIM:609053
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... ORPHA:750
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Dumbbell-shaped femur, Coronal cleft vertebrae, Stillbirth, Hitchhiker ... OMIM:256050
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Waddling gait, Femoral bowing, Obesity, Hip dysplas... ORPHA:174
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Accelerated skeletal maturation, Short metatarsal, Ulnar deviation of the hand, Acetab... ORPHA:93307
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Hip dysplasia, Abnormal form of the vertebral bodies, Corneal opacity, Abnormality of ... ORPHA:2370
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Abnormal heart morphology, Hypothyroidism, Camptodactyly, Patent ductus arteriosu... OMIM:608104
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Waddling gait, Short femoral neck, Hump-shaped mound of ... ORPHA:99642
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Chorioretinal hypopigmentation, Patent ductus arteriosus, Neutropenia, Acetabu... OMIM:617303
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Hypocalcemia, Spinal dysraphism, Neutropenia, Anemia,... ORPHA:175
Kniest Dysplasia
Lens luxation, Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, A... ORPHA:485
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebral bodies T1... OMIM:252500
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... ORPHA:90650
Walker-Warburg Syndrome
Cryptorchidism, Chorioretinal dysplasia, Muscular dystrophy, Iris coloboma, Corneal opacity, Apla... ORPHA:899
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Elbow dislocatio... ORPHA:2741
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Abnormality of the knee, Platyspondyly, Metaphyseal irregularity, Congenital statio... ORPHA:319195
Rajab Interstitial Lung Disease With Brain Calcifications 2
Scoliosis, Joint hypermobility, Decreased muscle mass, Microcytic anemia, Hypothyroidism, Hypopit... OMIM:619013
Aarskog-Scott Syndrome
Camptodactyly of finger, Cryptorchidism, Broad palm, Genu recurvatum, Joint hyperflexibility, Fin... ORPHA:915
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Elbow dislocation, Dorsal subluxation of... ORPHA:240
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal hea... ORPHA:294975
Fanconi Anemia
Scoliosis, Cryptorchidism, Patent ductus arteriosus, Weight loss, Bicornuate uterus, Leukopenia, ... ORPHA:84
Galloway-Mowat Syndrome 6
Hypothyroidism, Epicanthus, Decreased body weight, Hypoalbuminemia, Short stature, Microcephaly, ... OMIM:618347
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Blepharophimosis,... OMIM:206920
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Overweight, Difficulty walking, Short 5th metacarpa... ORPHA:370010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Difficulty walking, Kyphosis, Toe walking, Achilles tendon contracture,... OMIM:606612
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Fanconi Anemia, Complementation Group C
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Neutropenia, Pancytopenia, A... OMIM:227645
Kbg Syndrome
Scoliosis, Cryptorchidism, Finger clinodactyly, Thoracic kyphosis, Persistent open anterior fonta... ORPHA:2332
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Dextrocardia, Microphthalmia, Anophthalmia, Supernumerary ribs, Vertebral segme... OMIM:221950
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Anisospondyly, Metaphyseal enchondromatos... ORPHA:85198
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metacarpal bones, Hand oligodactyly, Ab... ORPHA:3104
Galloway-Mowat Syndrome 1
Camptodactyly, Small for gestational age, Hypoalbuminemia, Talipes equinovarus, Pachygyria, Hypop... OMIM:251300
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Finger sy... ORPHA:139471
Microphthalmia, Syndromic 3
Cryptorchidism, Patent ductus arteriosus, Postnatal growth retardation, Hemivertebrae, Anterior p... OMIM:206900
Dysostosis Multiplex, Ain-Naz Type
Scoliosis, Hypoplastic iliac wing, Severe short stature, Hemivertebrae, Flat acetabular roof, Gle... OMIM:619345
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Holoprosencephaly
Scoliosis, Cryptorchidism, Branchial anomaly, Spinal dysraphism, Iris coloboma, Failure to thrive... ORPHA:2162
Xeroderma Pigmentosum, Complementation Group F
Scoliosis, Flexion contracture, Defective DNA repair after ultraviolet radiation damage, Decrease... OMIM:278760
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Abnormality of chromosome stability, Growth delay, Neutropenia, Thromb... OMIM:614082
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split h... OMIM:171480
Ring Chromosome 21 Syndrome
Scoliosis, Azoospermia, Gait disturbance, Narrow palm, Fused thoracic vertebrae, Thoracic hemiver... ORPHA:1445
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Long eyelashes, Clin... OMIM:617883
Hypochondroplasia
Limited elbow extension, Childhood onset short-limb short stature, Lumbar hyperlordosis, Short lo... OMIM:146000
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Ovoid ve... OMIM:609052
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom... ORPHA:2831
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Patent ... OMIM:201000
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Iris coloboma, Anophthalmia, Eyelid coloboma, Vertebral segmentat... ORPHA:1104
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Accelerated skeletal maturation, Hyperlordosis, Genu valgum, Amelogenesis imperfecta, ... OMIM:618363
Gorlin Syndrome
Scoliosis, Cryptorchidism, Palmar pits, Iris coloboma, Epicanthus, Hemivertebrae, Vertebral fusio... ORPHA:377
Trichothiodystrophy
Cryptorchidism, Craniosynostosis, Thoracic kyphosis, Defective DNA repair after ultraviolet radia... ORPHA:33364
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Elbow dislocation, Abno... ORPHA:2916
Heart-Hand Syndrome Type 2
Cryptorchidism, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Sh... ORPHA:1350
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus, Short... OMIM:613885
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage, Cataract, Microphthalmia, ... OMIM:278780
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Abnormal vertebral morphology, Ventricular septal defect, Growth delay, Iris colo... ORPHA:77298
Kbg Syndrome
Cryptorchidism, Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Clin... OMIM:148050
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... OMIM:177170
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Boomerang Dysplasia
Cryptorchidism, Abnormal bone ossification, Abnormality of tibia morphology, Abnormality of femur... ORPHA:1263
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Lytic defects of humeral diaphysis, ... OMIM:601376
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Disproportionate short stature, Rhizomelia, Stippled calcification proximal humeral ep... OMIM:222765
Cockayne Syndrome Type 2
Scoliosis, Cryptorchidism, Developmental cataract, Male hypogonadism, Kyphosis, Flexion contractu... ORPHA:90322
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Camptodactyly, Pericardial effusion, Bilateral single transverse palma... OMIM:235510
Distal Monosomy 6P
Scoliosis, Talipes equinovarus, Atrial septal defect, Anterior synechiae of the anterior chamber,... ORPHA:96125
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc hypoplasia, Optic disc coloboma, Broad hallux phalanx, Iris coloboma... ORPHA:959
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Short long bone, Talipes equinovarus, Vertebral segmentation defect OMIM:618845
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Difficulty walking, Kyphosis, Toe walking, Achilles tendon contracture,... OMIM:607155
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Shor... OMIM:263540
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Osteoporosis, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Long eyelashes,... ORPHA:48431
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Developmental cataract, Metaphyseal irregularity, Swan neck-like deformities... OMIM:616716
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Epicanthus, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Microphthalmia, ... OMIM:615877
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Clinodactyly, Hip dislocation, Short neck, Short 5th ... OMIM:615583
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Syndromic 2
Scoliosis, Cryptorchidism, Iris coloboma, Patent ductus arteriosus, Sandal gap, Dextrocardia, Con... OMIM:300166
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, Ky... ORPHA:35173
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Fused cervical vertebrae, Adducted th... ORPHA:3320
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Joint laxity, Metap... OMIM:618395
Monosomy 5P
Scoliosis, Finger syndactyly, Joint hyperflexibility, Recurrent fractures, Epicanthus, Small hand... ORPHA:281
Roifman Syndrome
Prominent eyelashes, Postnatal growth retardation, Bilateral single transverse palmar creases, Hi... ORPHA:353298
Galloway-Mowat Syndrome 3
Pachygyria, Hypoplasia of the corpus callosum, Camptodactyly, Cerebral atrophy, Epicanthus, Micro... OMIM:617729
Charge Syndrome
Scoliosis, Cryptorchidism, Abnormality of tibia morphology, Iris coloboma, Patent ductus arterios... ORPHA:138
Trisomy 1Q
Camptodactyly of finger, Cryptorchidism, Preaxial hand polydactyly, Toe syndactyly, Ambiguous gen... ORPHA:261344
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Abnormal vertebral morphology, Ventricular septal defect, Op... OMIM:300514
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, Macrocephaly, Highly arched eyebrow, Narrow palpebral fissure, Microcephaly, Mega... OMIM:600325
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital hip dislocation, Hypoplasia of the corpus callosum, Orbital cyst, Anop... OMIM:164180
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Macrocephaly, Childhood onset short-limb short stature, Abno... ORPHA:429
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, C... OMIM:244600
Myhre Syndrome
Cryptorchidism, Camptodactyly, Narrow palpebral fissure, Patent ductus arteriosus, Pericardial ef... OMIM:139210
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic pelvis, Hypoplastic scapulae, Bilateral talipes equinovarus, Absent thumb, Short clav... OMIM:618022
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Abnormal heart valve morp... ORPHA:577
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant... OMIM:108720
Omodysplasia 2
Dislocated radial head, Cryptorchidism, Hypoplastic distal humeri, Limited elbow flexion/extensio... OMIM:164745
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Microphthalmia With Limb Anomalies
Cryptorchidism, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse pa... ORPHA:1106
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Patent ductus arteriosus, Small for gestational a... OMIM:610443
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Cryptorchidism, Toe syndactyly, Hypoglycemia, Cataract, Cone-shaped epiphyses of t... OMIM:618958
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Polydactyly, Iris coloboma, Hemivertebrae, Ovari... OMIM:109400
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brachydactyly, Fused cervical ... ORPHA:1436
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Split hand, Iris coloboma, Ectopia pupillae, Metatarsus adductus, Smal... OMIM:194190
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Epicanthus, Vertebral fusion, Abnormal cerv... OMIM:312150
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordosis, Vertebral fusion, A... ORPHA:313892
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Camptodactyly, Postnatal growth retardation, Failure to thrive in infa... OMIM:611209
Carpenter Syndrome
Genu valgum, Cryptorchidism, Craniosynostosis, Broad thumb, Postaxial hand polydactyly, Toe synda... ORPHA:65759
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Elbow dislocation, Increased bone mineral density, Abnormality of the ... ORPHA:628
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Limited elbow extension, Delayed pubic bone ossification, Platyspondyly, Abnormal ... ORPHA:1856
Charge Syndrome
Scoliosis, Cryptorchidism, Hypocalcemia, Iris coloboma, Patent ductus arteriosus, Postnatal growt... OMIM:214800
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Joint hypermobility, Maturity-onset diabetes of the young, Hypercholesterolemia, Impai... ORPHA:254531
Mirage Syndrome
Scoliosis, Cryptorchidism, Radial club hand, Rocker bottom foot, Microphallus, Overlapping finger... OMIM:617053
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Weight loss, Histiocytosis, Hypoalbuminem... OMIM:209950
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Bloom Syndrome
Cryptorchidism, Hand polydactyly, Azoospermia, Abnormality of chromosome stability, Postnatal gro... OMIM:210900
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Chorioretinal coloboma, Cryptorchidism, Epiphy... OMIM:619135
Hypomelanosis Of Ito
Scoliosis, Hand polydactyly, Kyphosis, Cerebral atrophy, Iris coloboma, Epicanthus, Radial deviat... OMIM:300337
Metaphyseal Acroscyphodysplasia
Scoliosis, Accelerated skeletal maturation, Irregular phalanges, Craniosynostosis, Short phalanx ... OMIM:250215
Roifman Syndrome
Prominent eyelashes, Postnatal growth retardation, Downslanted palpebral fissures, Short digit, E... OMIM:616651
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Short distal phalanx of finger, Ulnar bowing, Precocious puberty, Narrow pelvi... OMIM:210720
Lig4 Syndrome
Cryptorchidism, Biparietal narrowing, Abnormality of chromosome stability, Leukocytosis, Hypothyr... ORPHA:99812
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Hypothyroidism, Growth delay, Hyperb... ORPHA:1667
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Blepharophimosis, Joint hyperflexibility, Upslanted palpebral fissure,... ORPHA:96169
Severe Early-Childhood-Onset Retinal Dystrophy
Delayed social development, Abnormality of retinal pigmentation, Abnormal macular morphology, Opt... ORPHA:364055
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Abnormal vertebr... ORPHA:2345
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Failure to thrive in infancy, Cataract, Hypoalbuminemia, Microphthalmia, Dilat... OMIM:618805
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Immunodeficiency 54
Postnatal growth retardation, Adrenocorticotropic hormone excess, Reduced natural killer cell cou... OMIM:609981
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Epicanthus, Vertebral fusion, Abnormal cerv... OMIM:253290
Cohen Syndrome
Scoliosis, Cryptorchidism, Iris coloboma, Neutropenia, Failure to thrive in infancy, Sandal gap, ... ORPHA:193
Abetalipoproteinemia
Reticulocytosis, Hypoalbuminemia, Anemia, Cardiomegaly, Abnormal circulating apolipoprotein conce... ORPHA:14
Juberg-Hayward Syndrome
Scoliosis, Abnormality of the ribs, Hypoplasia of the radius, Highly arched eyebrow, Toe syndacty... ORPHA:2319
Vacterl With Hydrocephalus
Cryptorchidism, Hypoplasia of the radius, Spina bifida, Abnormal form of the vertebral bodies, Ar... ORPHA:3412
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thoracic kyphosis, Patent ductus arteriosus, Joint stiffness, Hypoalbuminemia, Leukopenia, Anemia... ORPHA:505248
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Hypercholesterolemia, Downslanted palpebral fissures, Joint hyperflexibility, Kyphosis... ORPHA:2479
Ulna Metaphyseal Dysplasia Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the radius, Abnormality of the metac... ORPHA:1837
Sponastrime Dysplasia
Scoliosis, Congenital aphakia, Hip subluxation, Joint laxity, Metaphyseal irregularity, Flattened... ORPHA:93357
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
Pelvis-Shoulder Dysplasia
Iris coloboma, Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk short stature, Fift... ORPHA:2839
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus, Ne... OMIM:227646
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Postnatal growth retardation, Pancytopenia, Intrauterine gro... OMIM:600546
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Bowing of the arm, Mesomel... OMIM:249710
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Scoliosis, Aniridia, Camptodactyly of finger, Cryptorchidism, Abnormal size of the palpebral fiss... ORPHA:1101
Fanconi Anemia, Complementation Group F
2-3 finger syndactyly, Hypoplasia of the radius, Cryptorchidism, Microphallus, Atrial septal defe... OMIM:603467
Brachydactyly Type A1
Scoliosis, Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Long eyelashes, Postnatal growth retardation, Short foot, Synophrys, Clino... OMIM:300590
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Bardet-Biedl Syndrome 22
Polydactyly, Microcephaly, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:617119
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Hallux valgus, Blepharophimosis, Synophrys, Microcornea, Delayed ... ORPHA:1327
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydact... OMIM:615983
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Synostosis of carpals/tarsals, Cone-shaped epiphysis,... OMIM:157800
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Adrenal insuffic... OMIM:617575
Cockayne Syndrome Type 1
Scoliosis, Cryptorchidism, Male hypogonadism, Increased blood urea nitrogen, Pigmentary retinopat... ORPHA:90321
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Sandal gap, Cataract,... ORPHA:2725
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Hypoalbuminemia, Hypoglycemia, Failure to thrive OMIM:617156
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia ... ORPHA:100
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Bardet-Biedl Syndrome 6
Polydactyly, External genital hypoplasia, Retinal dystrophy, Syndactyly, Hypospadias, Diabetes me... OMIM:605231
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Abnormality of the ribs, Short femur, Maternal diabetes, Radioulnar syn... ORPHA:1988
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Corneal opacity, Anophthalmia, Congenital diaphragmatic hernia, Clitoral... ORPHA:2556
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Fl... OMIM:601560
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Cryptorc... OMIM:304120
Duane Retraction Syndrome
Aniridia, Optic disc hypoplasia, Camptodactyly, Iris coloboma, Absent radius, Spina bifida occult... ORPHA:233
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Ectopic ossification in muscle tissue, ... OMIM:135100
20P13 Microdeletion Syndrome
Highly arched eyebrow, Wide anterior fontanel, Finger syndactyly, Polydactyly, Narrow palpebral f... ORPHA:313781
Multiple Osteochondromas
Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Bone pain, Abnormality of the meta... ORPHA:321
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Triphalangeal thumb, Preaxial hand polydactyly, Wide anterior fontanel, ... ORPHA:3098
Fanconi Anemia, Complementation Group E
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:600901
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Short 3rd toe, Cerebral atrophy, Decreased b... OMIM:619060
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Langer Mesomelic Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, Bowing of the long bon... ORPHA:2632
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Slc35A2-Cdg
Scoliosis, Joint hypermobility, Abnormality of long bone morphology, Craniosynostosis, Hip sublux... ORPHA:356961
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Cryptorchidism, Bifid distal phalanx of toe, Broad thumb, Clitoral... OMIM:268310
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal gro... OMIM:618728
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Delayed closure of the anterior fontanelle, Diastasis recti, Neonatal hypoglycemia, Polydactyly, ... ORPHA:231140
Fanconi Anemia, Complementation Group A
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227650
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Bilater... OMIM:143095
Focal Dermal Hypoplasia
Scoliosis, Aniridia, Cryptorchidism, Short metatarsal, Congenital hip dislocation, Joint laxity, ... OMIM:305600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Congenital hypothyroidism, Cardiomegaly, Hypoalbuminemia, Obesity ORPHA:88643
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Epiphyseal stippling, Polydactyly, Postaxial polydactyly, Postnatal growth retardation... OMIM:302960
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Distal Monosomy 17Q
Abnormal thumb morphology, Abnormal form of the vertebral bodies, Micromelia, Upslanted palpebral... ORPHA:1597
Shox-Related Short Stature
Scoliosis, Genu valgum, Cubitus valgus, Ulnar radial head dislocation, Madelung deformity, Tibial... ORPHA:314795
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Aplasia/Hypoplas... ORPHA:2491
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Craniosynostosis, Arthrogryposis multiplex congenita, Corneal opacity, Double out... OMIM:301056
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Growth delay, Short finger, Short toe, Abnormality of pelvic... OMIM:259270
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Unilateral ptosis, Hypermobility of interphalangeal joints, ... ORPHA:508498
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Joint stiffness,... ORPHA:1275
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Short hallux, Tarsal synostosis, Elbow dislocation, Synostosi... ORPHA:90652
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly... OMIM:300244
Warburg Micro Syndrome 3
Scrotal hypoplasia, Postnatal growth retardation, Cerebral cortical atrophy, Decreased testicular... OMIM:614222
Temple Syndrome
Scoliosis, Cryptorchidism, Decreased response to growth hormone stimuation test, Postnatal growth... ORPHA:254516
Fragile X Syndrome
Scoliosis, Macrocephaly, Joint laxity, Poor eye contact, Folate-dependent fragile site at Xq28, C... OMIM:300624
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Abnormal corneal endothelium morphology OMIM:614195
Baraitser-Winter Syndrome 1
Cryptorchidism, Iris coloboma, Patent ductus arteriosus, Postnatal growth retardation, Short neck... OMIM:243310
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Epicanthus, Postnatal growth retardation, Decreased body weight, External genital... OMIM:612947
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Chromosome 3Pter-P25 Deletion Syndrome
Cryptorchidism, Highly arched eyebrow, Blepharophimosis, Upslanted palpebral fissure, Epicanthus,... OMIM:613792
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Rickets... OMIM:600081
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Wormian bones, Cryptorchidism, Highly arched eyebrow, Wide anterior fontanel, Blep... OMIM:614541
Three M Syndrome 1
Joint hypermobility, Postnatal growth retardation, Small for gestational age, Spina bifida occult... OMIM:273750
Chondrodysplasia-Disorder Of Sex Development Syndrome
Chorioretinal coloboma, Increased skull ossification, Short phalanx of finger, Blepharophimosis, ... ORPHA:1422
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Poor eye contact, Hypoplasia of the corpus callosum, Long eyelashes, ... ORPHA:411986
Lamb-Shaffer Syndrome
Scoliosis, Hip dysplasia, Decreased head circumference, Thoracic kyphosis, Abnormal social behavi... ORPHA:530983
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Limb muscle weakness, Atlantoaxial instability, Limited elbow ... ORPHA:239
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Wormian bones, Abnormal femoral neck/head morphology, Exudative vitreoretinopathy, ... ORPHA:2788
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, Acute myeloid leukemia, Failure to thrive, T... OMIM:605724
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle... ORPHA:337
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Elbow dislocati... OMIM:108721
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Rod-cone dystrophy, Hypergonadotropic hypogonadism, Hypothyroidism, Kyphosis, Fle... OMIM:212065
Alagille Syndrome
Keratoconus, Abnormality of the ribs, Cryptorchidism, Atrial septal defect, Abnormal form of the ... ORPHA:52
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyponatremia, Failure to thrive, Hyperkalemia, Precocious puberty OMIM:614736
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Joint laxity, Metaphyseal irregularity, Metaphyseal cupping ... OMIM:250460
Meckel Syndrome
Cryptorchidism, Anencephaly, Pancreatic fibrosis, Anophthalmia, True hermaphroditism, Abnormal ch... ORPHA:564
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Rhizomelia, Short humerus, Short ribs, Short s... OMIM:610319
Microphthalmia, Syndromic 6
Cryptorchidism, Lambdoidal craniosynostosis, Polydactyly, Cerebral cortical atrophy, Anophthalmia... OMIM:607932
Desbuquois Dysplasia 2
Broad thumb, Joint laxity, Short phalanx of finger, Postnatal growth retardation, Flat acetabular... OMIM:615777
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Atrial septal defect, Ventricular septal defect, Aplasia/Hyp... ORPHA:290
Aicardi Syndrome
Scoliosis, Postnatal growth retardation, Hemivertebrae, Dilated third ventricle, Supernumerary ri... OMIM:304050
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Microcephaly, Ptosis, Abnormal hip bone morphology, Short stature, Abnor... ORPHA:2522
Prader-Willi Syndrome
Scoliosis, Cryptorchidism, Scrotal hypoplasia, Failure to thrive in infancy, Clitoral hypoplasia,... OMIM:176270
Seckel Syndrome 1
Scoliosis, Cryptorchidism, Proportionate short stature, Postnatal growth retardation, Sandal gap,... OMIM:210600
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Scoliosis, Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Hypoglycemi... OMIM:619055
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Camptodactyly of finger, Arthrogryposis multiplex congenita, Rocker botto... OMIM:610758
3C Syndrome
Scoliosis, Iris coloboma, Postnatal growth retardation, Hemivertebrae, Downslanted palpebral fiss... ORPHA:7
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Abnormality of the metacarpal bones, Abnormality of the ulna, Hypogon... ORPHA:2233
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Type II lissencephaly, Congenital muscular dystrophy, Megalocornea, ... ORPHA:370959
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Codas Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Short phalanx of finger, Rectovaginal fist... OMIM:600373
Mucopolysaccharidosis, Type Vii
Scoliosis, Corneal opacity, Postnatal growth retardation, Anterior beaking of lumbar vertebrae, M... OMIM:253220
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypoplasia of the radius, Short femur, Talipes equinovarus, Hypocalcemia, Rhizome... OMIM:607143
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Patent ductus arteriosus, Thora... ORPHA:457395
Sandestig-Stefanova Syndrome
Rocker bottom foot, Developmental cataract, Highly arched eyebrow, Hypoplasia of the corpus callo... OMIM:618804
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Bardet-Biedl Syndrome 11
Polydactyly, Hypogonadism, Retinopathy, Obesity OMIM:615988
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Decreased testicular size, ... ORPHA:90791
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Patent ductus... OMIM:616000
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Waddling gait, Short l... OMIM:186500
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Codas Syndrome
Scoliosis, Congenital hip dislocation, Coronal cleft vertebrae, Abnormal form of the vertebral bo... ORPHA:1458
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Broad distal phalanx of finger, Kyphosis, Upslanted palpebral fissure, ... OMIM:615761
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Thoracic kyphosis, Camptodactyly, Postnatal ... OMIM:223800
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Osteoarthri... ORPHA:1427
Saul-Wilson Syndrome
Platyspondyly, Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Neutropenia, Postna... OMIM:618150
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Optic atrophy OMIM:614296
Bardet-Biedl Syndrome 12
Polydactyly, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615989
Autosomal Dominant Omodysplasia
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Elbow dislocation, Rhizomelia, Short 1st meta... ORPHA:93328
Rere-Related Neurodevelopmental Syndrome
Scoliosis, Chorioretinal coloboma, Hip dysplasia, Cryptorchidism, Blepharophimosis, Abnormal hear... ORPHA:494344
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Short metatarsal, Short phalanx of finger, B... ORPHA:1826
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Iris coloboma, Papilledema, Double outlet right ventricle, Increased susceptibility to fractures,... ORPHA:371428
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Accelerated skeletal maturation, Cryptorchidism, Epiphyseal stippling, Short metatarsa... OMIM:101800
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Synostosis of carp... ORPHA:2639
19P13.3 Microduplication Syndrome
Osteoporosis, Hip dysplasia, Hip subluxation, Downslanted palpebral fissures, Ventricular septal ... ORPHA:447980
Silver-Russell Syndrome
Scoliosis, Cryptorchidism, Postnatal growth retardation, Sandal gap, Failure to thrive in infancy... ORPHA:813
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Small for gestational age, Severe postnatal growth retardation, Ost... ORPHA:73272
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Duane-Radial Ray Syndrome
Scoliosis, Optic disc hypoplasia, Iris coloboma, Sandal gap, Absent radius, Spina bifida occulta,... OMIM:607323
Branchiooculofacial Syndrome
Cryptorchidism, Branchial anomaly, Iris coloboma, Postnatal growth retardation, Short thumb, Anop... OMIM:113620
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Osteolysis, Abnormal form of the vertebral bodies, Abnormality of th... ORPHA:464329
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Cerebral calcification, Downslanted palpebral fissures, Abnormality ... ORPHA:198
Rajab Interstitial Lung Disease With Brain Calcifications 1
Scoliosis, Slender build, Hypocalcemia, Small scrotum, Joint laxity, Rickets, Growth delay, Cereb... OMIM:613658
Chromosome 8Q21.11 Deletion Syndrome
Blepharophimosis, Camptodactyly, Epicanthus, Opacification of the corneal stroma, Syndactyly, Sho... OMIM:614230
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Megalocornea-Mental Retardation Syndrome
Genu valgum, Hypercholesterolemia, Genu recurvatum, Epicanthus, Hypoplasia of the iris, Iridodone... OMIM:249310
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Bicornuate uterus, Congenital... OMIM:615524
Au-Kline Syndrome
Scoliosis, Hip dysplasia, Cryptorchidism, Craniosynostosis, Deep palmar crease, Overlapping toe, ... OMIM:616580
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Absent thumb, Microphthalmia, Anemia, Intrauterine growth re... OMIM:614083
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Horizontal ribs, Abn... ORPHA:1505
19P13.12 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Arthrogryposis multiplex congenita, Sandal gap, Toe ... ORPHA:254346
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Progressive macrocephaly, Joint laxity, Ventricular septal defect, Polyd... OMIM:602501
Galloway-Mowat Syndrome 8
Microcephaly, Focal cortical dysplasia, Hypoalbuminemia OMIM:618349
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp... OMIM:142900
Bardet-Biedl Syndrome 7
Polydactyly, Rod-cone dystrophy, External genital hypoplasia, Obesity OMIM:615984
Meier-Gorlin Syndrome 1
Cryptorchidism, Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Hemivertebr... OMIM:224690
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Developmental cataract, Rocker bottom foot, Growth delay, Scrotal hypopl... OMIM:610756
Bardet-Biedl Syndrome 10
Polydactyly, Retinal dystrophy, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615987
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Growth delay, Hyperbilirubinemia, Cerebral atrophy, Hypoglycemia, Thromb... OMIM:251880
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Metat... OMIM:271640
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Cerebral atrophy OMIM:607250
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Proportionate short stature, Lens luxation, Patent ductus arteriosus... OMIM:608328
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Toe syndactyly, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Seckel Syndrome 4
Steep acetabular roof, Decreased body weight, 11 pairs of ribs, Short stature, Intrauterine growt... OMIM:613676
Acrodysostosis
Accelerated skeletal maturation, Cryptorchidism, Hypoplasia of the radius, Epiphyseal stippling, ... ORPHA:950
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Scrotal hypoplasia, Bilateral sin... ORPHA:264200
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly, Short stature OMIM:617405
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Thoracolumbar scolios... OMIM:616549
Caudal Regression Sequence
Scoliosis, Cryptorchidism, Ambiguous genitalia, Abnormal iliac wing morphology, Joint stiffness, ... ORPHA:3027
Oculodentodigital Dysplasia
Abnormality iris morphology, Hyperostosis, Cerebral calcification, Abnormality of the metaphysis,... ORPHA:2710
Laurence-Moon Syndrome
Cryptorchidism, Hand polydactyly, Finger syndactyly, Iris coloboma, Epicanthus, Bilateral single ... ORPHA:2377
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Scoliosis, Narrow palpebral fissure, Patent ductus arteriosus, Anemia, Downslanted palpebral fiss... ORPHA:2637
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Failure to thrive in infancy, Delayed puberty, Joint stiffness, ... ORPHA:819
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Enamel hypoplasia, Bulging epiphyses, Subperiosteal bone resorption, H... OMIM:264700
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Blepharophimosis, Camptodactyly of toe, Joint hyperflexibility, Scrotal hypoplasi... ORPHA:127
Juvenile Polyposis Of Infancy
Clubbing of fingers, Macrocephaly, Atrial septal defect, Broad thumb, Freckled genitalia, Abnorma... ORPHA:79076
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroi... ORPHA:98754
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Joint hypermobility, Maturity-onset diabetes of the young, Cryptorchidism, Hypercholes... ORPHA:96184
Multiple Epiphyseal Dysplasia Type 5
Abnormal hip joint morphology, Joint stiffness, Arthralgia of the hip, Hip dysplasia, Genu valgum... ORPHA:93311
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Dilated cardiomyopathy, Mitten deformity, Corneal erosion, Growth del... ORPHA:89842
Acrodysostosis 2 With Or Without Hormone Resistance
Accelerated skeletal maturation, Cryptorchidism, Short metatarsal, Mild short stature, Short phal... OMIM:614613
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Radial head sublu... ORPHA:2634
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia OMIM:208920
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Aicardi Syndrome
Scoliosis, Optic disc coloboma, Delayed puberty, Supernumerary ribs, Precocious puberty, Bifid ri... ORPHA:50
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Hypopho... OMIM:307800
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Scrotal hypoplasia, Spina bifida o... ORPHA:2990
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroi... ORPHA:98793
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Ankyloblepharon, Absent eyebrow, Bic... OMIM:263650
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Macrocephaly, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping,... OMIM:300863
Bardet-Biedl Syndrome 13
Polydactyly, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-c... OMIM:615990
Al Kaissi Syndrome
Decreased head circumference, Deep palmar crease, Atrial septal defect, Hypoplasia of the corpus ... OMIM:617694
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Postnatal growth retardation, Microphthalmia... OMIM:609054
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Elbow dislocation, Joint hyperflexibility, Limb undergrowth, Short ri... ORPHA:1803
Mosaic Trisomy 9
Scoliosis, Cryptorchidism, Elbow dislocation, Patent ductus arteriosus, Corneal opacity, Hemivert... ORPHA:99776
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Abnormal heart morphology, Acromicria, Postnatal growth retardation, Clinodactyly, Small hand, Re... ORPHA:254525
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Female external genitalia in individual with 46,XY karyotype, Decreased testicula... ORPHA:168558
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Upslanted palpebral fissure, Epicanthus, Anophthalmia, Sparse and thi... ORPHA:66625
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroi... ORPHA:177904
Jacobsen Syndrome
Cryptorchidism, Iris coloboma, Clitoral hypoplasia, Eyelid coloboma, Labial hypoplasia, Short nec... OMIM:147791
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Short stature, Kyphoscoliosis... OMIM:600384
Marden-Walker Syndrome
Scoliosis, Cryptorchidism, Camptodactyly, Postnatal growth retardation, Dextrocardia, Short neck,... OMIM:248700
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Enamel hypoplasia, Bulging epiphyses, Subperiosteal bone resorption, H... OMIM:277440
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-... ORPHA:1836
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroi... ORPHA:177901
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Short toe, Tarsal synostosis, Short phalanx of fin... OMIM:609441
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Eosinophilia, T... OMIM:274000
Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Narrow palpebral f... ORPHA:398073
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Patent ductus arteriosus, Anencephaly, Bowing of the legs, Patent foramen ovale,... OMIM:269860
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Female external genitalia in individual with 46,XY karyotype, Decreased testicula... ORPHA:289548
Kapur-Toriello Syndrome
Scoliosis, Cryptorchidism, Iris coloboma, Patent ductus arteriosus, Bilateral single transverse p... OMIM:244300
Cri-Du-Chat Syndrome
Scoliosis, Cryptorchidism, Diastasis recti, Overfriendliness, Short metatarsal, Growth delay, Epi... OMIM:123450
Myhre Syndrome
Cryptorchidism, Large iliac wing, Joint stiffness, Abnormality of the ribs, Abnormality of the me... ORPHA:2588
Harrod Syndrome
Scoliosis, Cryptorchidism, Joint hyperflexibility, Kyphosis, Microcephaly, Cataract, Cerebral cor... ORPHA:2115
17Q23.1Q23.2 Microdeletion Syndrome
Scoliosis, Patent ductus arteriosus, Bilateral single transverse palmar creases, Sandal gap, Long... ORPHA:261279
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal lower limb muscle weakness, Distal amyotrophy, Hypoalbuminemia ORPHA:94124
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Joint laxity, Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Pycnodysostosis
Scoliosis, Wormian bones, Osteolytic defects of the distal phalanges of the hand, Persistent open... OMIM:265800
Mend Syndrome
Overlapping fingers, Cryptorchidism, Overlapping toe, Polydactyly, Kyphosis, 2-3 toe syndactyly, ... OMIM:300960
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Decreased fibular diameter, Multiple prenatal fractures, Small for gestational age... OMIM:616897
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Rickets... OMIM:241530
Cenani-Lenz Syndrome
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Short thumb, Abnormality of th... ORPHA:3258
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Broad hallux phalanx, Hypoplasia of the... ORPHA:2249
Alport Syndrome
Retinal flecks, Anterior lenticonus, Posterior subcapsular cataract, Abnormal corneal endothelium... ORPHA:63
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Scoliosis, Hyperlordosis, Genu valgum, Congenital hip dislocation, Abnormal vertebral morphology,... OMIM:616007
Bresek Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Growth delay, Iris coloboma, Hemivertebrae... ORPHA:85284
Short Syndrome
Joint laxity, Glucose intolerance, Enlarged epiphyses, Rieger anomaly, Insulin-resistant diabetes... OMIM:269880
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Proportionate short stature, Optic disc hypoplasia, Short distal phalanx of... ORPHA:79345
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Growth delay, Muscular dystrophy, Hypermethionin... ORPHA:88618
Mesomelia-Synostoses Syndrome