Gene Summary

Name:
activin A receptor, type 1
Synonyms:
Acvr1a,  ActRIA,  Tsk7L,  Alk-2,  SKR1,  Acvrlk2,  Alk8,  D330013D15Rik,  Acvr,  ActR-I,  ALK2

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
embryonic lethality prior to organogenesis Acvr1tm1.1(KOMP)Vlcg HOM   E9.5 0.00
increased circulating total protein level Acvr1tm1.1(KOMP)Vlcg HET Early adult 3.93×10-05
preweaning lethality, complete penetrance Acvr1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Acvr1tm1.1(KOMP)Vlcg HOM   E12.5 0.00

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (1 of 1)
Aorta  Section images heterozygote 100% (1 of 1)
Bone marrow  Section images heterozygote 100% (1 of 1)
Brown adipose tissue  Section images heterozygote 100% (1 of 1)
Cecum  Section images heterozygote 100% (1 of 1)
Cerebellum  Section images heterozygote 100% (1 of 1)
Colon  Section images heterozygote 100% (1 of 1)
Diaphragm  Section images heterozygote 100% (1 of 1)
Duodenum  Section images heterozygote 100% (1 of 1)
Epididymis  Section images heterozygote 100% (1 of 1)
Esophagus  Section images heterozygote 100% (1 of 1)
Eye  Section images heterozygote 100% (1 of 1)
Gonadal fat pad  Section images heterozygote 100% (1 of 1)
Harderian gland  Section images heterozygote 100% (1 of 1)
Ileum  Section images heterozygote 100% (1 of 1)
Jejunum  Section images heterozygote 100% (1 of 1)
Kidney  Section images heterozygote 100% (1 of 1)
Liver  Section images heterozygote 100% (1 of 1)
Lung  Section images heterozygote 100% (1 of 1)
Mesenteric adipose tissue  Section images heterozygote 100% (1 of 1)
Mesenteric lymph node  Section images heterozygote 100% (1 of 1)
Midbrain  Section images heterozygote 100% (1 of 1)
Olfactory lobe  Section images heterozygote 100% (1 of 1)
Pancreas  Section images heterozygote 100% (1 of 1)
Parotid gland  Section images heterozygote 100% (1 of 1)
Penis  Section images heterozygote 100% (1 of 1)
Pituitary gland  Section images heterozygote 100% (1 of 1)
Prostate gland  Section images heterozygote 100% (1 of 1)
Quadriceps  Section images heterozygote 100% (1 of 1)
Sciatic nerve  Section images heterozygote 100% (1 of 1)
Skin  Section images heterozygote 100% (1 of 1)
Spinal cord  Section images heterozygote 100% (1 of 1)
Spleen  Section images heterozygote 100% (1 of 1)
Stomach  Section images heterozygote 100% (1 of 1)
Sublingual gland  Section images heterozygote 100% (1 of 1)
Submandibular gland  Section images heterozygote 100% (1 of 1)
Testis  Section images heterozygote 100% (1 of 1)
Thymus  Section images heterozygote 100% (1 of 1)
Thyroid gland  Section images heterozygote 100% (1 of 1)
Tongue  Section images heterozygote 100% (1 of 1)
Trachea  Section images heterozygote 100% (1 of 1)
Trigeminal V nerve  Section images heterozygote 100% (1 of 1)
Urinary bladder  Section images heterozygote 100% (1 of 1)
Vas deferens  Section images heterozygote 100% (1 of 1)
Vesicular gland  Section images heterozygote 100% (1 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 28.57% (2 of 7)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 28.57% (2 of 7)
Embryo N/A heterozygote 28.57% (2 of 7)
Eye N/A heterozygote 28.57% (2 of 7)
Footplate N/A heterozygote 28.57% (2 of 7)
Forebrain N/A heterozygote 28.57% (2 of 7)
Forelimb N/A heterozygote 28.57% (2 of 7)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 28.57% (2 of 7)
Head N/A heterozygote 28.57% (2 of 7)
Heart N/A heterozygote 28.57% (2 of 7)
Hindbrain N/A heterozygote 28.57% (2 of 7)
Hindlimb N/A heterozygote 28.57% (2 of 7)
Liver N/A heterozygote 28.57% (2 of 7)
Lung N/A heterozygote 28.57% (2 of 7)
Mandibular process N/A heterozygote 28.57% (2 of 7)
Maxillary process N/A heterozygote 28.57% (2 of 7)
Midbrain N/A heterozygote 28.57% (2 of 7)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 28.57% (2 of 7)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 28.57% (2 of 7)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 28.57% (2 of 7)
Tail N/A heterozygote 28.57% (2 of 7)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Adult LacZ

LacZ Images Section

114 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Acvr1 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 Acvr1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Acvr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Czech Dysplasia
Osteochondroma, Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebr... OMIM:609162
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatars... OMIM:271650
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Broad palm, Osteoporosi... ORPHA:93351
Metachondromatosis
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Exostoses, Avascular necrosis... ORPHA:2499
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Cervical platyspondyly, Abnormality of the vertebral column, Genu varu... ORPHA:93314
Multiple Osteochondromas
Short lower limbs, Abnormality of the knee, Abnormal lower limb bone morphology, Femoroacetabular... ORPHA:321
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chon... ORPHA:564003
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Pes planus, Short ... OMIM:251450
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma, Joint contracture of the hand, Broad femoral metaphyses, Arachnodactyly, Scoliosi... OMIM:610474
Chromosome 8Q22.1 Duplication Syndrome
Abnormality of the vertebral column, Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged in... OMIM:151200
Brachydactyly, Combined B And E Types
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... OMIM:112440
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed... OMIM:601438
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... ORPHA:93387
Ruvalcaba Syndrome
Short metatarsal, Small hand, Kyphosis, Short metacarpal, Short foot, Limited elbow extension, Sh... OMIM:180870
Acromesomelic Dysplasia 1
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... OMIM:602875
Smith-Mccort Dysplasia 2
Broad metatarsal, Flattened femoral head, Hypoplasia of the odontoid process, Short metatarsal, M... OMIM:615222
Brachydactyly, Mononen Type
Aplasia of the distal phalanx of the 2nd finger, Absent distal phalanges, Proximal fibular overgr... OMIM:301940
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... OMIM:250230
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... OMIM:113000
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Enlargement o... OMIM:223800
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... OMIM:132400
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Dysspondyloenchondromatosis
Lower limb asymmetry, Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Abnormality of... ORPHA:85198
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Pseudopseudohypoparathyroidism
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Ecto... ORPHA:79445
Otopalatodigital Syndrome Type 1
Short hallux, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of ... ORPHA:90650
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Short metatarsal, Avascu... OMIM:190351
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Jackson-Weiss Syndrome
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... OMIM:123150
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Pes planus, Patent ductus arteriosu... ORPHA:457395
Metachondromatosis
Bowing of the long bones, Multiple digital exostoses, Abnormal joint morphology, Multiple enchond... OMIM:156250
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Short metatarsal, Cubitus valgus, Pes planus, Rimmed vacuoles,... OMIM:248800
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... OMIM:610017
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Enlargement of the c... OMIM:609052
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Antecubital pterygium, Fused ce... OMIM:618469
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Broad palm, Narrow pelvis bone, Cubitus va... ORPHA:79106
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Short middle phalanx of finger, Chronic otitis media, Short metatarsal, Short proximal phalanx of... OMIM:613627
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Kyphoscoli... OMIM:277300
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, E... OMIM:312150
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Talipes equinovarus, Patent ductus arteriosus, Sacral dimple, Short long bone, ... OMIM:618845
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... ORPHA:1436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... OMIM:606612
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand po... ORPHA:1278
Pde4D Haploinsufficiency Syndrome
Broad metatarsal, Upper limb undergrowth, Short middle phalanx of finger, Micrognathia, Cone-shap... ORPHA:439822
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, E... OMIM:253290
Saul-Wilson Syndrome
Micrognathia, Talipes equinovarus, Short metatarsal, Platyspondyly, Short metacarpal, Short dista... OMIM:618150
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Peroneal muscle atrophy, Abnormal foot morphology, Weakness of the intrinsic hand muscles, Absent... ORPHA:324442
Adams-Oliver Syndrome 3
Short metatarsal, 2-3 toe syndactyly, Short distal phalanx of finger, Absent toe OMIM:614814
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Pyknoachondrogenesis
Stillbirth OMIM:265880
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Long fibula, Broad femoral metaphyses, Short long bone, Broad ... ORPHA:2502
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... OMIM:135100
Nicolaides-Baraitser Syndrome
Prominent interphalangeal joints, Eczema, Short metatarsal, Sandal gap, Short metacarpal, Short p... OMIM:601358
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... ORPHA:1540
Acrodysostosis
Abnormality of the ulna, Spinal canal stenosis, Cone-shaped epiphysis, Epiphyseal stippling, Shor... ORPHA:950
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... ORPHA:93315
Thiemann Disease
Short phalanx of finger, Broad phalanx, Avascular necrosis OMIM:165700
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndactyly, Short metac... OMIM:605282
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Satoyoshi Syndrome
Skeletal muscle hypertrophy, Short metatarsal, Pes planus, Genu valgum, Short metacarpal, Osteoly... OMIM:600705
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Cone-shaped epiphysis, Short metatarsal, Short metacarpal, Accelerated ske... OMIM:614613
Cohen Syndrome
Micrognathia, Narrow palm, Tapered finger, Short metatarsal, Cubitus valgus, Facial hypotonia, Pe... OMIM:216550
Frontometaphyseal Dysplasia
Short metatarsal, Pes valgus, Joint contracture of the hand, Progressive bowing of long bones, Ca... ORPHA:1826
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Short 4th metacarpal, Type E brachydactyly OMIM:113301
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... OMIM:106990
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Pseudopseudohypoparathyroidism
Short metatarsal, Osteoporosis, Short metacarpal, Short neck, Brachydactyly OMIM:612463
Trichorhinophalangeal Syndrome Type 1 And 3
Micrognathia, Shortening of all phalanges of fingers, Cone-shaped epiphysis, Short metatarsal, Av... ORPHA:77258
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Micrognathia, Flat capital femoral epi... OMIM:190350
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Short metacarpal, Brachydactyly OMIM:113400
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal vertebral segmentation and fusion, Abnormal sacrum ... ORPHA:2345
Wahab Syndrome
Ankylosis, Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Cam... OMIM:615170
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Clinodactyly ... OMIM:244600
Andersen Cardiodysrhythmic Periodic Paralysis
Toe syndactyly, Micrognathia, Short metatarsal, Small hand, Clinodactyly of the 5th toe, Short ma... OMIM:170390
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Myopathy, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Bowing of the legs, Patchy oste... OMIM:112250
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Flattened femoral head, Irregular epiphyses, Genu varum, Abnormality of femur ... ORPHA:1822
Oncogenic Osteomalacia
Abnormal foot morphology, Neoplasm of the skeletal system, Tibial bowing, Abnormality of femur mo... ORPHA:352540
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Oslam Syndrome
Neoplasm, Radial deviation of finger, Osteosarcoma, Clinodactyly, Radioulnar synostosis OMIM:165660
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Short 5th finger, Hip dislocation, Scoliosis, Short neck, Clinod... OMIM:615583
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metop... OMIM:309620
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... OMIM:263540
Brachydactyly, Type E2
Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy, Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Lim... OMIM:127300
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Flattened metacarpal heads, Constrictive pericarditis, Congenital finger fl... OMIM:208250
Roifman-Chitayat Syndrome
Cone-shaped epiphysis, Pneumonia, Short metatarsal, Arthritis, Osteopenia, Short metacarpal, Shor... OMIM:613328
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Posterior rib fusion, Missing ribs, Supernu... OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ri... OMIM:613686
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... ORPHA:93356
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, R... OMIM:602111
Exostoses, Multiple, Type I
Abnormal foot morphology, Rib exostoses, Chondrosarcoma, Scapular exostoses, Genu valgum, Coxa va... OMIM:133700
Kniest Dysplasia
Aplasia/hypoplasia of the extremities, Short long bone, Coronal cleft vertebrae, Vertebral wedgin... ORPHA:485
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... OMIM:609945
Weaver Syndrome
Talipes equinovarus, Joint contracture of the hand, Short ribs, Diastasis recti, Limited elbow ex... OMIM:277590
Aarskog-Scott Syndrome
Broad palm, Talipes, Abnormal vertebral segmentation and fusion, Small hand, Pes planus, Genu rec... ORPHA:915
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hemivertebrae, Hip contracture, Craniosynostosis, Arthrogryp... OMIM:178110
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma, Joint swelling OMIM:127820
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Ovoid vertebra... OMIM:102370
Pallister-Hall Syndrome
Distal arthrogryposis, Polydactyly affecting the 4th finger, Broad toe, Patent ductus arteriosus,... ORPHA:672
Kbg Syndrome
Vertebral fusion, Radial deviation of finger, Cervical ribs, Syndactyly, Vertebral arch anomaly, ... OMIM:148050
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... ORPHA:1836
Hypochondroplasia
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... OMIM:618435
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Hypoplastic vertebral bodies, Abnormal form of the vertebral bod... ORPHA:2916
Hand-Foot-Genital Syndrome
Delayed tarsal ossification, Short 2nd toe, Pyelonephritis, Proximal placement of thumb, Short 5t... OMIM:140000
Exostoses, Multiple, Type Ii
Rib exostoses, Chondrosarcoma, Scapular exostoses, Genu valgum, Coxa vara, Short metacarpal, Prot... OMIM:133701
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged metacarpal epiphyses, Broad toe, Pes planus, Cupped ribs, Short long bone, Flat acetabul... OMIM:609616
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Osteoglophonic Dysplasia
Broad metatarsal, Pseudoarthrosis, Broad palm, Hypoplastic scapulae, Short metatarsal, Bowing of ... OMIM:166250
Gorlin Syndrome
Plantar pits, Vertebral fusion, Vertebral wedging, Hemivertebrae, Palmar pits, Arachnodactyly, Ne... ORPHA:377
Ring Chromosome 21 Syndrome
Narrow palm, Small hand, Syndactyly, Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae,... ORPHA:1445
Kbg Syndrome
Vertebral fusion, Short neck, Cervical ribs, Thoracic kyphosis, Scoliosis, Delayed skeletal matur... ORPHA:2332
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... ORPHA:1427
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Narrow... ORPHA:66637
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Synostosis of carpal bones, Short 1st metacarpal, Short thumb, Sacra... ORPHA:2438
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Pelvic girdle muscle weakness, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoul... OMIM:607155
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Limb muscle weakness, Fusion of midcervical facet joints, Cervical vertebral bodies with decrease... OMIM:606842
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Prominent interphalangeal joints, Large tarsal bones, Micrognathia, Coronal cleft vertebrae, Shor... OMIM:215150
Chromosome 2Q37 Deletion Syndrome
Eczema, Short metatarsal, Short metacarpal, Short toe, Short phalanx of finger OMIM:600430
Zechi-Ceide Syndrome
Short metatarsal, Long foot, Short distal phalanx of finger, Sandal gap OMIM:612916
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Long phalanx of finger, Skel... OMIM:305620
Abnormal Hair, Joint Laxity, And Developmental Delay
2-3 toe syndactyly, Increased carrying angle, Short fifth metatarsal, Recurrent otitis media, Cli... OMIM:261990
Larsen Syndrome
Spondylolysis, Knee dislocation, Multiple carpal ossification centers, Talipes equinovarus, Beaki... OMIM:150250
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Recurrent otitis media, Fused cervical vertebrae, Pseud... OMIM:157800
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Ectopic ossification in muscle tissue, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:337
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Prominent interdigital folds, Short 1st metacarpal, Short distal pha... OMIM:601957
Asymmetric Short Stature Syndrome
Hemihypotrophy of lower limb, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Macroglossia, Limb undergrowth, Generalized osteosclerosis... ORPHA:1423
Tolchin-Le Caignec Syndrome
Osteochondroma, Cardiac rhabdomyoma, Micrognathia, Arachnodactyly, Diastasis recti, Clinodactyly ... OMIM:618971
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Acrodysostosis 1 With Or Without Hormone Resistance
Broad palm, Spinal canal stenosis, Epiphyseal stippling, Short metatarsal, Dislocated radial head... OMIM:101800
Brachydactyly, Type E1
Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Type E brachydactyly OMIM:113300
Odontochondrodysplasia 1
Genu varum, Genu recurvatum, Short phalanx of finger, Short long bone, Flat acetabular roof, Cone... OMIM:184260
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Distal Monosomy 10Q
Short metatarsal, Pes valgus, Pes planus, Patent ductus arteriosus, Prominent fingertip pads, Mic... ORPHA:96148
Acrocraniofacial Dysostosis
Abnormality of the vertebral column, Metatarsus adductus, Micrognathia, Craniosynostosis, Short 1... OMIM:201050
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Hip dy... OMIM:619598
Basal Cell Nevus Syndrome
Plantar pits, Basal cell carcinoma, Short ribs, Short 4th metacarpal, Medulloblastoma, Odontogeni... OMIM:109400
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Scoliosis, Lu... ORPHA:313892
Cri-Du-Chat Syndrome
Metatarsus adductus, Short metatarsal, Pes planus, Diastasis recti, Short metacarpal, Syndactyly,... OMIM:123450
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... ORPHA:93360
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short dist... OMIM:184460
Wt Limb-Blood Syndrome
Micrognathia, Ulnar deviation of the 3rd finger, Radioulnar synostosis, Leukemia, Short thumb, Ab... OMIM:194350
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Abnormality of limb ... OMIM:118100
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... ORPHA:2631
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Eczema, Patellar hypoplasia, Short fourth metatarsal, Short neck, Brachydactyly ORPHA:464288
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Spondylocarpotarsal Synostosis Syndrome
Capitate-hamate fusion, Talipes equinovarus, C2-C3 subluxation, Epiphyseal dysplasia, Pes planus,... OMIM:272460
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short neck, Short metatarsal, Short metacarpal, Brachydactyly OMIM:617157
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Micrognathia, Myopathy, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Flexion contractur... OMIM:616549
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Osteoporosis, Short metacarpal, Short toe, Short neck, Brachydactyly OMIM:103580
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Micrognathia, Epiphyseal stippling, Shortening of all distal phalanges... OMIM:619135
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Ollier Disease
Hemangioma, Visceral angiomatosis, Lymphangioma, Chondrosarcoma, Platyspondyly, Abnormality of th... ORPHA:296
Shox-Related Short Stature
Micrognathia, Tibial bowing, Skeletal muscle hypertrophy, Lower limb undergrowth, Cubitus valgus,... ORPHA:314795
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... OMIM:607326
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... ORPHA:524
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Platyspondyly, Flattened metatarsal heads, Osteoa... OMIM:271600
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Long fingers, Short toe, Proximal placement of thumb, Hip dislocation, Pes cavus,... OMIM:613458
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Tapered finger, Irregular vertebral endplates, Kyphoscoliosis, Di... OMIM:612350
Sillence Syndrome
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... ORPHA:3168
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Delayed ossification of carpal bones, Joint stiffness,... OMIM:127200
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Micrognathia, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Cone-shaped epiphysis, Short metatarsal, Rhizomelia, Small hand, Osteopenia, Short metacarpal, Sh... OMIM:614813
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... ORPHA:56304
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Osteoporosis, Short metacarpal, Short neck, Brachydactyly OMIM:612462
Zechi-Ceide Syndrome
Short metatarsal, Long foot, Short distal phalanx of finger, Sandal gap ORPHA:217017
Weill-Marchesani Syndrome 2
Broad metatarsal, Broad palm, Spinal canal stenosis, Flexion contracture of toe, Short finger, Sh... OMIM:608328
Oslam Syndrome
Clinodactyly of the 5th finger, Osteosarcoma, Radioulnar synostosis ORPHA:2760
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Genu varum, Leukemia, Basal cell carcinoma, Facial edema, Pathologic fractu... ORPHA:221016
Multiple Pterygium Syndrome, Escobar Variant
Talipes equinovarus, Syndactyly, Dysplastic patella, Micrognathia, Talipes calcaneovalgus, Patell... OMIM:265000
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Short ph... OMIM:300106
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Kyphosis, Hip subluxation, Short fourth metatarsal, Scoliosis, Prominent... OMIM:619557
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Arthrogryposis, Distal, Type 3
Cutaneous finger syndactyly, Micrognathia, Distal arthrogryposis, Decreased muscle mass, Talipes ... OMIM:114300
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Cubitus valgus, Absent frontal sinuses, Delayed skeletal maturat... OMIM:211910
Femoral-Facial Syndrome
Talipes equinovarus, Hypoplastic acetabulae, Short humerus, Short fourth metatarsal, Limited elbo... OMIM:134780
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Kyphosis, Slender finger, Rib fusion, Vertebral segmentation ... OMIM:609813
Rare Circulatory System Disease
Abnormal foot morphology, Abnormality of the knee, Abnormality of the elbow, Enlargement of the w... ORPHA:98028
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Broad toe, Hypoplastic sacrum, Delayed skeletal matura... OMIM:268310
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Kyphosis, Fused cervical vertebrae, Abnormal rib morphology, Hyperlordosis, Short n... ORPHA:2522
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Rhizomelia, Wormian bones, Platyspondyly, Pes planus, Thoracic kyphosis, De... OMIM:619638
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... ORPHA:959
Van Maldergem Syndrome 2
Cutaneous finger syndactyly, Abnormal foot morphology, Short clavicles, Micrognathia, Abnormality... OMIM:615546
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteosarcoma, Bone pain, Osteolysis OMIM:167250
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Hip contracture, Talipes equinovarus, Ulnar deviation of the hand, Short m... OMIM:617137
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Abnormal foot morphology, Short clavicles, Micrognathia, Abnormality... OMIM:601390
Acromesomelic Dysplasia 3
Tarsal synostosis, Fibular aplasia, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Talipes, Ulnar deviation of finger, Broad thumb, Hypop... ORPHA:2249
Caudal Regression Sequence
Decreased muscle mass, Talipes equinovarus, Abnormal vertebral segmentation and fusion, Missing r... ORPHA:3027
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal vertebral morphology, Abno... ORPHA:324964
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Thyroid carcinoma, Rickets, Abnormality of the radius, Pathologic fractu... ORPHA:249
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Fibular aplasia, Short hallux, Micrognathia, Hypoplastic frontal sinuses, Abno... ORPHA:90652
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Single transverse palmar crease, Macroglossia, Arthrogryposis multip... OMIM:618143
Atelosteogenesis, Type Iii
Cervical segmentation defect, Knee dislocation, Tibial bowing, Radial bowing, Micrognathia, Talip... OMIM:108721
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Anterior scalloping of vertebral bodies, Short toe, Single interphalangeal crease... OMIM:611717
Heyn-Sproul-Jackson Syndrome
Broad phalanx, 11 pairs of ribs, Short metacarpal, Short phalanx of finger, Broad metacarpals OMIM:618724
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Lytic defects of humeral ... OMIM:601376
Tibial Aplasia-Ectrodactyly Syndrome
Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split... ORPHA:3329
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Thickened Achilles tendo... OMIM:203500
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short metatarsal, Short metacarpal, Short phalanx of finger, Short toe OMIM:211370
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Genu varum, Leukemia, Basal cell carcinoma, Facial edema, Osteosarcoma, Del... ORPHA:221008
Sheldon-Hall Syndrome
Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of finger, Aplasia/Hypoplasia of... ORPHA:1147
Platyspondylic Dysplasia, Torrance Type
Genu varum, Hypoplastic scapulae, Bowing of the long bones, Hydrops fetalis, Platyspondyly, Polyh... ORPHA:85166
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly OMIM:112410
Richieri Costa-Da Silva Syndrome
Metatarsus adductus, Decreased muscle mass, Generalized bone demineralization, Skeletal muscle hy... ORPHA:3101
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossification, Aplasia/hypopl... OMIM:276820
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Torticollis, Oste... ORPHA:73
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Short... OMIM:615994
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormality of the vertebral column, Abnormal foot morphology, Abnormal hip joint morphology, Kne... ORPHA:85438
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Mesomelia-Synostoses Syndrome
Abnormal foot morphology, Abnormality of the knee, Synostosis of joints, Abnormality of tibia mor... ORPHA:2496
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae OMIM:214300
Myhre Syndrome
2-3 toe syndactyly, Skeletal muscle hypertrophy, Patent ductus arteriosus, Enlarged vertebral ped... OMIM:139210
Bruck Syndrome 2
Talipes equinovarus, Increased susceptibility to fractures, Wormian bones, Knee flexion contractu... OMIM:609220
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Pseudohypoparathyroidism Type 1C
Short 3rd metacarpal, Short 5th metacarpal, Calcinosis, Short metatarsal, Short fifth metatarsal,... ORPHA:79444
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Thin ribs, Hemivertebrae, Missing ribs, Short ribs, Supernumerary vertebrae, Ol... OMIM:271520
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... OMIM:601559
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Pes planus, Toe clinodactyly, Short... OMIM:615777
Acrodysostosis With Multiple Hormone Resistance
Spinal canal stenosis, Cone-shaped epiphysis, Short metatarsal, Hypoplastic vertebral bodies, Abs... ORPHA:280651
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... OMIM:231070
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Metatarsus adductus, Scapuloperoneal amyotrophy, Scapular muscle atrophy... OMIM:181405
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Greenberg Dysplasia
Epiphyseal stippling, Short ribs, Supernumerary vertebral ossification centers, Multiple prenatal... OMIM:215140
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Hypothalamic hamartoma, Missing ribs, Paten... OMIM:206900
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Simpson-Golabi-Behmel Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Talipes equinovarus, Finger syndactyly, Cam... ORPHA:373
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Absent frontal sinuses, Lim... OMIM:311300
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Achondrogenesis, Type Ii
Abnormal foot morphology, Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Edema, Short... OMIM:200610
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... ORPHA:93352
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Trisomy 8P
Multiple joint contractures, Neuroblastoma, Metopic suture patent to nasal root, Short fifth meta... ORPHA:264450
Weismann-Netter Syndrome
Fibular bowing, Horizontal sacrum, Lateral femoral bowing, Kyphosis, Anterior tibial bowing, Scol... OMIM:112350
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Micrognathia, Thin ribs, Bowing of the long bones, Joint laxity, Worm... OMIM:617952
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Enlargement of the wrists, Bowing of the legs, Rickets, Metaphysea... OMIM:600081
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Tibial bowing, Fibular bowing, Generalized bone demineralization, Rickets, Bowing of ... OMIM:600785
Koolen-De Vries Syndrome
Eczema, Positional foot deformity, Vertebral fusion, Narrow palm, Patent ductus arteriosus, Slend... OMIM:610443
Pitt-Hopkins Syndrome
Narrow foot, Hodgkin lymphoma, Tapered finger, Short metatarsal, Pes valgus, Esophagitis, Small h... ORPHA:2896
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, Platyspondyly, Short neck, Cervical kyphosis, Flexion contracture, Femoral bowing,... OMIM:245160
Achondrogenesis Type 2
Micromelia, Delayed proximal femoral epiphyseal ossification, Edema, Short ribs, Absent vertebral... ORPHA:93296
Refsum Disease, Classic
Short fourth metatarsal, Pes cavus, Limb muscle weakness OMIM:266500
Pseudohypoparathyroidism Type 1A
Short 3rd metacarpal, Short 5th metacarpal, Calcinosis, Short metatarsal, Short fifth metatarsal,... ORPHA:79443
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Micrognathia, Vertebral fusion, Sclerosis of skull base, Wormian bone... OMIM:130720
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Cubitus valgus, Pes planus, Deviation of the 5th finger, Camptodactyly of fi... OMIM:143095
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormality of the hand, Abnormal hip joint morphology, Synovitis, Ankle sw... ORPHA:85408
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Wormian ... OMIM:601356
Nasodigitoacoustic syndrome
Enlarged epiphyses, Short 3rd metacarpal, Rounded epiphyses, Broad distal phalanx of finger, Broa... OMIM:255980
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Patellar aplasia, Flat capital femoral epiphysis, Hypoplasia of ... OMIM:147891
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs,... OMIM:250220
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the patella, Micrognathia, Hand oligodactyly, Aplasia/Hypoplasia of the thu... ORPHA:1225
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Osteopenia, Fused cervical vertebrae, Osteomyelitis, Skin rash, Flaring of r... OMIM:612852
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
Anauxetic Dysplasia 3
Short middle phalanx of finger, Beaking of vertebral bodies, Platyspondyly, Genu valgum, Joint hy... OMIM:618853
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Spinal canal stenosis, Tibial bowing, Fibular bowing, Bowing of the leg... OMIM:307800
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Pes planus, Protrusio acetabuli, Sclerotic cranial sutures, D... OMIM:259600
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Small thenar eminence, Facial palsy, Pes planus... OMIM:607323
Moebius Syndrome
Micrognathia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Facial diplegia, Conge... OMIM:157900
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short middle phalanx of finger, Absent... OMIM:606895
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Abnormal vertebral morphology, Small thenar emi... OMIM:142900
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Vertebral segmentation defect, Scoli... ORPHA:96169
Osteogenesis Imperfecta, Type Xiv
Increased susceptibility to fractures, Osteopenia, Femoral bowing, Recurrent fractures, Scoliosis OMIM:615066
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta ORPHA:2956
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Hip contracture, Talipes equinovarus, Calf muscle hypoplasia, Patent ductu... OMIM:121050
Faciodigitogenital Syndrome, Autosomal Recessive
Metatarsus adductus, Broad palm, Vertebral fusion, Hyperextensible hand joints, Down-sloping shou... OMIM:227330
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Edema, Short ribs, Polyhydramnios, Micromelia, Hyd... OMIM:600972
Wildervanck Syndrome
Short neck, Facial palsy, Fused cervical vertebrae ORPHA:3456
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Anterior rib cupping, Talipes equinovarus, Short hume... OMIM:211350
Opsismodysplasia
Metaphyseal cupping, Anterior rib cupping, Hypoplastic vertebral bodies, Rhizomelia, Edema, Poste... OMIM:258480
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... ORPHA:85167
Fibrochondrogenesis 1
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Hydrops ... OMIM:228520
Focal Dermal Hypoplasia
Short metatarsal, Midclavicular hypoplasia, Short ribs, Foot polydactyly, Diastasis recti, Short ... OMIM:305600
Mosaic Trisomy 20
Limited pronation/supination of forearm, Micrognathia, Spinal canal stenosis, Vertebral fusion, F... ORPHA:1724
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Hemivertebrae, Block vertebrae, Hemangioma, Carcinoma, Missing r... OMIM:304050
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... OMIM:147750
Duane Retraction Syndrome
Micrognathia, Triphalangeal thumb, Skeletal muscle atrophy, Talipes equinovarus, Aplasia/Hypoplas... ORPHA:233
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Lethal Kniest-Like Dysplasia
Broad long bones, Anterior rib cupping, Coronal cleft vertebrae, Talipes equinovarus, Edema, Shor... ORPHA:2347
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Thin ribs, Wormian bones, Platyspondyly, Kyphosis, Multiple prenata... OMIM:610915
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Broad finger, Small hand, Perianal abscess, Short phalanx of finger, Clinod... OMIM:614684
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Pes planus, Broad hallux, Thoracic scoliosis, Microretrognathia, Micrognathia... ORPHA:508498
Yunis-Varon Syndrome
Decreased calvarial ossification, Short metatarsal, Absent hallux, Aplastic clavicle, Aplasia/Hyp... OMIM:216340
Peters-Plus Syndrome
Short metatarsal, Proximal placement of thumb, Patent ductus arteriosus, Diastasis recti, Syndact... OMIM:261540
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Proximal femoral epiphysiolysis, Narrow pelvis bone, Craniosynostosis, Platyspon... OMIM:616723
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal skeletal muscle morphology, Internally nucleated skeletal muscle fibers, Tibialis atroph... ORPHA:98905
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Vertebral fusion, Hemivertebrae, Polyhydramnios, 11 pairs of ribs, Oligohydramnios, Rib fusion, S... ORPHA:94095
Cartilage-Hair Hypoplasia
Flaring of lower rib cage, Hypoplasia of the odontoid process, Metaphyseal dysplasia, Neoplasm of... OMIM:250250
Mucopolysaccharidosis Type 7
Metatarsus adductus, Diaphyseal thickening, Ascites, Epiphyseal stippling, Anterior beaking of lo... ORPHA:584
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Talipes equinovarus, Rhizomelia, Metaphyseal irregularity, Edema, Short ... OMIM:245190
Campomelic Dysplasia
Shortening of all phalanges of the toes, Shortening of all phalanges of fingers, Micrognathia, Th... OMIM:114290
Wiedemann-Steiner Syndrome
Short middle phalanx of finger, Tapered finger, Sacral dimple, Delayed skeletal maturation, Short... OMIM:605130
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Sapho Syndrome
Abnormality of the vertebral column, Psoriasiform dermatitis, Inflammation of the large intestine... ORPHA:793
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Polyhydramnios, Osteopenia, Femoral bowing OMIM:618188
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Micrognathia, Muscle hypertrophy of the lower extremities, Cervix cancer, Gonadobl... ORPHA:1772
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal, Short thumb, Absent thu... OMIM:609053
Larsen Syndrome
Laryngotracheomalacia, Large joint dislocations, Abnormality of epiphysis morphology, Craniosynos... ORPHA:503
Pachydermoperiostosis
Neoplasm of the skin, Eczematoid dermatitis, Genu varum, Neoplasm of the lung, Abnormality of epi... ORPHA:2796
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Capillary hemangioma, Ce... ORPHA:508533
Diamond-Blackfan Anemia 1
Bifid thoracic vertebrae, Micrognathia, Triphalangeal thumb, Myelodysplasia, Hypoplastic sacral v... OMIM:105650
Laurin-Sandrow Syndrome
Absent tibia, Patellar aplasia, Triphalangeal thumb, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Multiple lipomas, Small hand, Missing ribs, Hepatoblastoma, Hip ... ORPHA:50
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Osteopenia, Femoral bowing, Recurrent fractures, Scoliosis OMIM:126550
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Craniosynostosis, Syndactyly, Coronal craniosynostosis, Sagitt... OMIM:614188
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, Kyphoscoliosis, Sandal gap, Finger syndactyly, Short metacarpal, Short foot, Delaye... OMIM:264475
Martsolf Syndrome 1