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Gene: Itgb1bp1 MGI:1306802

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin beta 1 binding protein 1
Synonyms:
bodenin

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Itgb1bp1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Itgb1bp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Thoracic kyphosis, Abnormal bone ossification, Abnormal femoral neck/head morphology,... ORPHA:163649
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Depressed nasal bridge, Short neck, Abnormality of the humerus, Preaxial... ORPHA:3098
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Small for gestational age, Broad hallux, Depressed nasal bridge, Short n... OMIM:614541
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... ORPHA:85184
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... ORPHA:2370
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Gillessen-Kaesbach-Nishimura Syndrome
Short neck, Underdeveloped nasal alae, Wide anterior fontanel, Metaphyseal widening, Flexion cont... OMIM:263210
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Radial head subluxa... OMIM:614078
Teebi Hypertelorism Syndrome 2
Syndactyly, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wide anterior fontanel, Propt... OMIM:619736
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Wide anterior fontanel, Wide nasal bridge OMIM:614859
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe... OMIM:610915
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Depressed nasal bridge, Joint hypermobility, Thora... OMIM:618853
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Anteverted nares, Depressed nasal bridge, Large for gestational age, Hypertelorism... OMIM:618272
Rhizomelic Syndrome
Complete duplication of thumb phalanx, Wide anterior fontanel, Hip dislocation, Bifid distal phal... OMIM:268250
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Broad n... OMIM:619451
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Joint stiffness, Hypoplastic ilia,... ORPHA:1860
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Anteverted nares, Depressed nasal bridge, Hypertelorism, Increased intervertebral ... OMIM:618961
Saul-Wilson Syndrome
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... OMIM:618150
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Anteverted nares, Hypertelorism, Wide anterior fontanel, Ulnar bowing, Sh... OMIM:619135
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
20P13 Microdeletion Syndrome
Finger syndactyly, Failure to thrive in infancy, Prominent nasal bridge, Hypertelorism, Wide ante... ORPHA:313781
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Kyphoscoliosis, Hypertelorism, Wide anterior fontanel, Absent na... OMIM:608545
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Acrofrontofacionasal Dysostosis 2
Syndactyly, Sacral dimple, Wide nose, Broad hallux, Hypertelorism, Wide anterior fontanel, Hand p... OMIM:239710
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,... OMIM:269300
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Prominent nose, Hypertelorism, Wide anterior fontanel, Wide nasal bridge, Fibula... OMIM:201170
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Short neck, Depressed nasal ridge, Large fontanelles, Proptosis, Short nose, De... ORPHA:1832
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Peroxisome Biogenesis Disorder 7A (Zellweger)
Epiphyseal stippling, Large posterior fontanelle, Wide anterior fontanel OMIM:614872
Acrocephalopolydactyly
Genu recurvatum, Short neck, Hypertelorism, Depressed nasal ridge, Short long bone, Premature clo... ORPHA:221054
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v... OMIM:620099
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wide anterior fontan... OMIM:207410
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Small for gestational age, Failure to thrive in infancy, Hypertelorism, W... OMIM:617241
Fibrochondrogenesis
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short ne... ORPHA:2021
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Short palm, Short phalanx of finger, Cortic... OMIM:249420
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short neck, Depressed nasal ridge, Triangular shaped distal phalanges of the ... OMIM:271665
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Hypertelorism, Unilambdoid synostosis, Wide nasal... OMIM:618577
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... ORPHA:157965
Acrocallosal Syndrome
Wide anterior fontanel, Postaxial hand polydactyly, Triphalangeal thumb, Hypertelorism ORPHA:36
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Wormian bones, Short nose OMIM:601853
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Iliac crest serration, Small for gestational age, Anteverted nares, Short neck, Wide d... OMIM:613320
Donnai-Barrow Syndrome
Depressed nasal bridge, Hypertelorism, Wide anterior fontanel, Proptosis, Short nose ORPHA:2143
Peroxisome Biogenesis Disorder 11A (Zellweger)
Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Large fontanelles, Failure to t... OMIM:614883
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Hypertelorism, Inc... ORPHA:561
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Hypoplasia of the odon... ORPHA:85172
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral retroversion,... OMIM:610682
Desbuquois Syndrome
Genu recurvatum, Camptodactyly of finger, Anteverted nares, Coxa valga, Elbow dislocation, Short ... ORPHA:1425
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... ORPHA:2347
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Hypertelo... OMIM:601390
Smith-Kingsmore Syndrome
Depressed nasal bridge, Large for gestational age, Short proximal phalanx of finger, Wide anterio... OMIM:616638
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Anteverted nares, Prominent nasal bridge, Delayed closure of the anteri... OMIM:607812
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Wide anterior fontanel, Scoliosis, Short nose, Fail... OMIM:219200
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Hypertelorism, Wide anterior ... OMIM:300963
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Wide anterior fontanel, Failure to thrive in infancy, Deeply set eye OMIM:619064
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Tetrasomy 5P
Overlapping toe, Anteverted nares, Short hallux, Short neck, Hypertelorism, Long fingers, Wide an... ORPHA:3309
Van Maldergem Syndrome 2
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Depressed... OMIM:615546
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Anteverted nares, Large tarsal bones... OMIM:215150
Stickler Syndrome Type 1
Osteoarthritis, Joint hyperflexibility, Platyspondyly, Proptosis, Abnormal epiphysis morphology, ... ORPHA:90653
Kleeblattschaedel
Proptosis, Elbow ankylosis, Craniosynostosis OMIM:148800
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Persistent open an... ORPHA:1798
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Hyper... OMIM:616920
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Hypertelorism, Punctate ve... ORPHA:1914
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose OMIM:300577
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br... OMIM:614886
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Short neck, Hy... OMIM:217980
Six2-Related Frontonasal Dysplasia
Depressed nasal bridge, Small for gestational age, Broad nasal tip, Hypertelorism, Wide anterior ... ORPHA:488437
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Anisospondyly, Hypertelorism, Hi... ORPHA:2484
Trigonocephaly 2
Depressed nasal bridge, Wide nasal bridge, Metopic synostosis, Hypertelorism OMIM:614485
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Wide... ORPHA:2774
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Hypertelorism, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum, ... ORPHA:166024
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Anteverted nares, Reduced bone mineral density, Slender long bone, Joint hyperfl... ORPHA:1185
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Neonatal Adrenoleukodystrophy
Wide anterior fontanel, Anteverted nares, Wide nasal bridge ORPHA:44
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial suture closure, ... ORPHA:357058
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Arachnodactyly, Genu recurvatum, Craniosynostosis, Anteverted nares, Me... OMIM:182212
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Depressed nasal bridge OMIM:275100
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Wide anterior fontanel, Small hand, Antecubital pterygium, Popli... OMIM:619339
Marden-Walker Syndrome
Arachnodactyly, Anteverted nares, Short neck, Hypertelorism, Wide anterior fontanel, Kyphosis, Ra... OMIM:248700
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Hypertelorism, Metaphyseal widening, Large fontanelles, Abnormal form of the ve... ORPHA:73230
Progeroid Syndrome, Petty Type
Wide anterior fontanel, Failure to thrive, Decreased skull ossification, Short distal phalanx of ... ORPHA:2963
Hypophosphatasia, Childhood
Proptosis, Craniosynostosis, Bowing of the legs OMIM:241510
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Flexion contracture, Hip dysplasia, Scoliosis, Short nose, Failure to thrive OMIM:618379
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Short neck, Short thumb, Obesity, Limited shoulder movem... OMIM:618821
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Small for gestational age, Anteverted nares, Depressed nasal bridge, Hyperte... OMIM:615834
Acrocraniofacial Dysostosis
Anteverted nares, Choanal atresia, Craniosynostosis, Tapered finger, Coxa valga, Prominent nasal ... ORPHA:949
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Small for gestational age, Anteverted nares, Hypertelorism, Kyphosis, Wide n... ORPHA:352490
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Lissencephaly, X-Linked, 2
Wide anterior fontanel, Prominent nasal bridge, Wide nasal bridge OMIM:300215
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Bulbous nose, Small ... ORPHA:969
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Choanal atresia,... OMIM:617746
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Squared i... ORPHA:2746
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Proptosis, Hypertelorism, Brachydactyly ORPHA:35099
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Large posterior fontanelle, Depressed nasal bridge, Postaxial polydactyly, Short neck, Hypertelor... OMIM:617925
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, D... OMIM:114290
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Hypertelorism, Kyphosis, Platyspondyly, Pr... OMIM:616294
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Narrow nasal bridge, Brachydactyly, Abnormality of the wrist, Abnormal thumb morphology, Hyperlor... ORPHA:2511
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec... ORPHA:337
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Hypertelorism, Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ri... ORPHA:166277
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Joint laxity, Choanal atresia, Sagittal craniosynostosis, Bowing of the le... OMIM:617063
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la... OMIM:615777
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... ORPHA:93315
Trigonocephaly 1
Craniosynostosis, Wide nasal bridge, Hypotelorism, Lumbar hemivertebrae, Metopic synostosis, Shor... OMIM:190440
Hao-Fountain Syndrome
Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure OMIM:616863
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Clinodactyly of the 5th finger, Short nose, Failure... ORPHA:217340
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wide anterior fontanel, Proptosis, Short ... OMIM:222448
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Proptosi... ORPHA:1310
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Craniosynostosis, Hypertelorism, Long fingers, Bulbous nose, Wide nasa... OMIM:613174
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Tarsal synostosis, Aplastic clavicle, Wide anterior fontanel, Kyphosi... ORPHA:85199
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Muenke Syndrome
Broad hallux, Hypertelorism, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of th... OMIM:602849
Alg9-Cdg
Prominent metopic ridge, Depressed nasal bridge, Short neck, Underdeveloped nasal alae, Wide ante... ORPHA:79328
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose, Hypertelorism OMIM:125700
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small for gestational age, Fifth finger distal phalanx clinodactyly, Metopic suture patent to nas... ORPHA:3369
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor... OMIM:304120
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Zellweger Syndrome
Depressed nasal bridge, Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling, Failure ... ORPHA:912
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Hyperextensibility of the knee, Tibial bowing, Hypotelorism, Short pal... OMIM:601812
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Wide nose, Camptodactyly of finger, Craniosynostosis,... ORPHA:3210
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Abnormal vertebral morphology, Short nose, Short neck ORPHA:2015
Grant Syndrome
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Large fontanelles, Joint hyp... ORPHA:2097
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... OMIM:615349
Pycnodysostosis
Persistent open anterior fontanelle, Prominent nose, Generalized osteosclerosis, Hypoplastic ilia... ORPHA:763
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Depressed nasal bridge, Wide anterior fontanel, Kyphosis, Tibial bowing, Fe... OMIM:616482
3Mc Syndrome 1
Sacral dimple, Single interphalangeal crease of fifth finger, Hypertelorism, Wide anterior fontan... OMIM:257920
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Crouzon Syndrome With Acanthosis Nigricans
Proptosis, Choanal atresia, Craniosynostosis, Hypertelorism OMIM:612247
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... ORPHA:171839
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... OMIM:166210
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel OMIM:618240
Thanatophoric Dysplasia
Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hy... ORPHA:2655
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Proptosis, Abnormal nasal morphology, Brachydactyly ORPHA:3303
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Short columella, Patchy distortion of vertebrae, Shor... OMIM:155050
Opitz-Kaveggia Syndrome
Syndactyly, Sacral dimple, Multiple joint contractures, Broad hallux, Lumbar hyperlordosis, Delay... OMIM:305450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Choanal stenosis, Abnormality of the wrist, Elbow ankylosis,... ORPHA:95699
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Elbow cont... OMIM:617201
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Anteverted nares, Short nose ORPHA:46
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Shallow orbits, Short phalanx of finger, Ps... OMIM:166250
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Pr... OMIM:112240
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal form of th... ORPHA:2050
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of... ORPHA:429
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Short neck, Hypertelorism, Clinodactyly of the 5th finger,... ORPHA:217385
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Sho... OMIM:225410
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Hypertelorism, Elbow dislocation, Shor... ORPHA:3258
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Wormian bones, Sho... OMIM:601224
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Anteverted nares, Decreased... OMIM:616897
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Long nose, Deeply... ORPHA:508533
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Trigonocephaly With Short Stature And Developmental Delay
Small for gestational age, Sagittal craniosynostosis, Wide nasal bridge, Premature posterior font... OMIM:314320
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Proptosis, Osteolysis, Short distal phalanx of finger ORPHA:2776
Cherubism
Bone cyst, Proptosis ORPHA:184
Transaldolase Deficiency
Depressed nasal bridge, Small for gestational age, Short neck, Wide anterior fontanel, Failure to... OMIM:606003
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short neck, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger... OMIM:266920
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Wide anterior fontanel, Scoliosis, Contracture of the proximal interp... ORPHA:457279
Gapo Syndrome
Anteverted nares, Joint hypermobility, Delayed closure of the anterior fontanelle, Depressed nasa... OMIM:230740
Ritscher-Schinzel Syndrome 4
Tapered finger, Hypertelorism, Premature anterior fontanel closure, Hip dislocation, Wide nasal b... OMIM:619435
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly, Sandal gap, Depressed nasal bridg... ORPHA:235
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ankle swelling, Wrist swelling, Osteolysis involving tarsal bones, Metatarsal osteoly... OMIM:166300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... OMIM:614732
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Wide nose, Hyperlordosis, Depressed nasal ridge, Coxa vara, Genu... ORPHA:2831
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Delayed cranial suture closure, Delayed closure of the an... OMIM:278250
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Hypertelorism, Preaxial... OMIM:175700
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Wormian bones, Short 4th ... OMIM:619638
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Depressed nasal bridge, Short neck, Increase... OMIM:256050
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, Abnormal ... ORPHA:1458
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Anteverted nares, Broad femoral nec... OMIM:611209
Congenital Disorder Of Glycosylation, Type If
Wide anterior fontanel, Failure to thrive, Flexion contracture OMIM:609180
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Hypertelorism, Long fingers... ORPHA:401973
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... OMIM:618618
Non-Distal Duplication 10Q
Depressed nasal bridge, Hypertelorism, Joint hyperflexibility, Scoliosis, Short nose, Convex nasa... ORPHA:1695
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Anteverted nares, Depressed nasal bridge, Flexion contracture, Large f... OMIM:222765
1p36 microdeletion syndrome
Deeply set eye, Delayed cranial suture closure DECIPHER:18
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas... OMIM:108720
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatarsal, Advanced ossificati... OMIM:614613
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Proptosis, Abnormal hip bone morph... ORPHA:2522
Odontochondrodysplasia
Bowing of the long bones, Depressed nasal bridge, Coxa valga, Cone-shaped epiphysis, Joint hyperf... ORPHA:166272
Pierpont Syndrome
Decreased body weight, Wide nose, Short neck, Broad nasal tip, Hypertelorism, Short toe, Short fo... OMIM:602342
Distal Deletion 10Q
Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Hypotelorism, Clinodactyly of the... ORPHA:96148
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri... ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Hypertelorism, Hypoplastic pubic ... ORPHA:93346
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Bowing of the legs, Hypoplastic ilia, Short neck, Anisospondyly, Flexion contra... ORPHA:1865
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal bridge, Small abnor... ORPHA:140
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Deeply set eye, Short nose, Spin... ORPHA:2983
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta, Abnormal ver... OMIM:218600
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Fla... OMIM:146000
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... ORPHA:1529
Restrictive Dermopathy 1
Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Narrow nasal ridge, Depressed nasal b... OMIM:275210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Coxa valga, Hyperlordosis, Advanced ossification of carpal bones... OMIM:618363
Peroxisome Biogenesis Disorder 1A (Zellweger)
Anteverted nares, Rocker bottom foot, Hypertelorism, Metatarsus adductus, Wide anterior fontanel,... OMIM:214100
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Anteverted nares, Ab... ORPHA:950
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... OMIM:608022
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... OMIM:271510
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Deeply ... ORPHA:96334
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Narrow nasal bridge, Sandal gap, Anteverted nares, Craniosynostosi... ORPHA:254346
Muenke Syndrome
Tarsal synostosis, Hypertelorism, Cone-shaped epiphysis, Short foot, Proptosis, Short palm, Carpa... ORPHA:53271
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Shallow orbits, Short palm, Short phalanx of finger, Sh... OMIM:258480
Robinow Syndrome, Autosomal Dominant 1
Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Anteve... OMIM:180700
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Hypertelorism, Obesity, Deeply set eye, Hip dysplasia, Clinodac... OMIM:617991
Filippi Syndrome
Underdeveloped nasal alae, 2-4 toe syndactyly, Wide nasal bridge, Cutaneous syndactyly, Finger cl... OMIM:272440
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Proptosis OMIM:187500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Schinzel-Giedion Syndrome
Short neck, Tibial bowing, Choanal stenosis, Shallow orbits, Hypertelorism, Wide anterior fontane... ORPHA:798
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Metaphyseal widening, Generalized joi... ORPHA:536471
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Genu recurvatum, Biconvex vertebral bodies, Metaphyseal widening... OMIM:184260
Crouzon Syndrome
Choanal atresia, Hypertelorism, Abnormal sacrum morphology, Multiple suture craniosynostosis, Pro... ORPHA:207
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Wide anterior fontanel ORPHA:95715
Maxillonasal Dysplasia
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Vertebral cleftin... ORPHA:1248
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... OMIM:184252
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Flexion contracture, Dislocated radial head, Long... OMIM:130070
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... OMIM:302950
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Depressed nasal bridge, Recurrent fractures, Bowing of t... OMIM:613849
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Frontoocular Syndrome
Coronal craniosynostosis, Proptosis, Prominent nasal bridge, Hypotelorism OMIM:605321
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Hypertelori... OMIM:612940
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Bulbous nose, Proptosis, Anteverted nares, Prominent nose OMIM:618492
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... OMIM:614856
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Thoracic scoliosis, Proptosis, Lumbar scoliosis, Prominent nose OMIM:616171
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Vertebral segmentatio... ORPHA:1323
Atelosteogenesis Type I
Joint dislocation, Short femur, Hypertelorism, Abnormal ossification involving the femoral head a... ORPHA:1190
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Coxa vara, In... OMIM:610968
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Hypertelorism, Split hand, Short nose, Convex nasal ridge, B... ORPHA:2145
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Flexion contracture, Proptosis, Progressive clavicular acroosteolysis, Osteol... OMIM:608612
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervical vertebrae, Verte... ORPHA:79345
Pontocerebellar Hypoplasia Type 10
Proptosis, Wide nasal bridge, Underdeveloped nasal alae ORPHA:411493
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin... OMIM:309620
Craniometaphyseal Dysplasia, Autosomal Dominant
Hypertelorism, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Nasal congestion, A... OMIM:123000
Rubinstein-Taybi Syndrome 1
Prominent nose, Flexion contracture, Deeply set eye, Hypoplastic iliac wing, Clinodactyly of the ... OMIM:180849
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd ... OMIM:118651
Verheij Syndrome
Joint laxity, Vertebral fusion, Small for gestational age, Anteverted nares, Short neck, Broad na... OMIM:615583
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic pubic bone, Sho... OMIM:614524
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... OMIM:619131
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive... ORPHA:1225
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Cone-shaped epiphysis, ... OMIM:102370
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Short neck, Multiple joint dislocation, Knee dislocation, Shoulder dislocation, Dislo... OMIM:245600
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Hypoplasia of the odontoi... ORPHA:239
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypertelorism, Abnormal sacrum morphology, Abnormal form of the vertebral bodies... ORPHA:93262
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Delayed epiphyseal ossification, Flexion contracture, Dee... OMIM:616007
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Hypertelorism, Metaphysea... OMIM:156400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Metaphyseal cupping of metacarp... OMIM:300863
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... OMIM:101600
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Small for gestational age, Recurrent fra... OMIM:616229
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Anteverted nares, Depressed nasal bridge, Craniosynostosis, El... ORPHA:93329
Arthrogryposis, Distal, Type 2A
Joint dislocation, Short neck, Knee flexion contracture, Deeply set eye, Spina bifida occulta, Wr... OMIM:193700
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ... OMIM:166220
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... OMIM:609220
Pde4D Haploinsufficiency Syndrome
Prominent nose, Short metatarsal, Hypotelorism, Irregular vertebral endplates, Bilateral coxa val... ORPHA:439822
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Depressed nasal bridge, Thoracolumbar scoliosis, Sagittal craniosynostosis, Choanal a... OMIM:610199
Cleidocranial Dysplasia
Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida occulta, Decre... ORPHA:1452
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Knee... OMIM:620351
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Hypertelorism, Short metatarsal, 2-3 toe syndactyly, Sympha... ORPHA:1540
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Hypertelorism, Deeply set eye, Toe clinodactyly, Short nose ORPHA:261120
Isolated Osteopoikilosis
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... ORPHA:166119
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Deeply set eye, Scoliosis, Short nose ORPHA:2429
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Small for gestational age, Hypertelorism, Metatarsus adductu... OMIM:614866
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Choan... OMIM:613385
Lowry-Maclean Syndrome
Osteopenia, Choanal atresia, Craniosynostosis, Osteoporosis, Small anterior fontanelle, Widely pa... ORPHA:2409
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Choanal ste... OMIM:101200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Hypertelorism, Broad nasal tip, Obesity, Short nose OMIM:613670
Osteoglosphonic Dysplasia
Failure to thrive in infancy, Anteverted nares, Craniosynostosis, Choanal atresia, Hypertelorism,... ORPHA:2645
Sclerosteosis 1
Syndactyly, Depressed nasal bridge, Sclerotic scapulae, Hypertelorism, 2-3 finger syndactyly, Wid... OMIM:269500
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Delayed cranial suture closure, Severe generalized osteoporosis, Kyphoscoliosis,... OMIM:210730
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... OMIM:620269
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Hyperlordosis, Facial hyperostosis, Large fontanelles, High iliac... ORPHA:2780
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Joint stiffness, Delayed closure of the anterior fo... OMIM:614008
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Abnormal fibula morphology, Coxa vara, Abnormal pelvic g... ORPHA:1988
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspon... ORPHA:93274
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... ORPHA:94068
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co... OMIM:309350
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... OMIM:151210
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Overlapping toe, Anteverted nares, Hypertelorism, Flexion contracture, Wide ... OMIM:619383
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... ORPHA:251014
Bainbridge-Ropers Syndrome
Arachnodactyly, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped ... OMIM:615485
Shprintzen-Goldberg Syndrome
Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ... ORPHA:2462
20Q11.2 Microduplication Syndrome
Prominent metopic ridge, Sacral dimple, Anteverted nares, Depressed nasal bridge, Wide nasal brid... ORPHA:363659
Pycnodysostosis
Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Prominent... OMIM:265800
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Depressed nasal bridge, Hyperlordosis ORPHA:26791
Craniosynostosis 4
Depressed nasal bridge, Sagittal craniosynostosis, Hypertelorism, Proptosis, Pansynostosis, Lambd... OMIM:600775
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... ORPHA:2557
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares ORPHA:1450
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... OMIM:200990
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Hypoplastic iliac wing, Short p... OMIM:611717
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... ORPHA:2788
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Anteverted nares, Hypertelorism, Wide anterior fontanel, Wide na... OMIM:300000
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Joint stiffness, Metatarsus adductus, Elbow disloca... ORPHA:2249
Mandibuloacral Dysplasia With Type B Lipodystrophy
Convex nasal ridge, Abnormal fingertip morphology, Large fontanelles, Osteolysis, Proptosis, Oste... ORPHA:90154
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Kyphosis, Abnormality of the elbow,... ORPHA:3121
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Wide anterior fontanel, Depressed nasal bridge OMIM:231680
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Inc... OMIM:166200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Down-sloping shoulders, Narrow nasal ridge, Coxa valga, Joint stiffness, Convex nasal... OMIM:248370
Bohring-Opitz Syndrome
Joint dislocation, Syndactyly, Prominent metopic ridge, Sacral dimple, Overlapping toe, Ulnar dev... OMIM:605039
Fontaine Progeroid Syndrome
Syndactyly, Small for gestational age, Depressed nasal bridge, Craniosynostosis, Hypertelorism, W... OMIM:612289
Crouzon Syndrome
Sagittal craniosynostosis, Hypertelorism, Proptosis, Lambdoidal craniosynostosis, Shallow orbits,... OMIM:123500
Marbach-Rustad Progeroid Syndrome
Femur fracture, Reduced bone mineral density, Proptosis, Short clavicles, Shallow orbits, Wormian... OMIM:619322
Craniosynostosis 6
Delayed cranial suture closure, Craniosynostosis, Hypertelorism, Right unilambdoid synostosis, Sc... OMIM:616602
Ogden Syndrome
Large posterior fontanelle, Congenital hip dislocation, Short neck, Deeply set eye, Clinodactyly ... OMIM:300855
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Increased bone mineral density, Anteverted nares, Apl... ORPHA:50945
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Persistent open anterior fontanelle, Arachnodactyly, Hypertelorism, Camptodactyly, ... OMIM:615539
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Hypertelorism, Hip dislocat... OMIM:219150
Xylt1-Cdg
Joint laxity, Joint dislocation, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone,... ORPHA:370930
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Short neck, Hyperlordosis, Kyphosis, Hypertel... ORPHA:2789
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Small for gestational age, Depressed nasal bridge, Flexion contracture, Proptosis, Decreased body... OMIM:618346
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Genu recurvatum, Tapered finger, Short 3rd toe, Joint hyperflexibility, Deeply set eye, Proptosis... OMIM:618707
Raine Syndrome
Bowing of the long bones, Increased bone mineral density, Depressed nasal bridge, Choanal atresia... OMIM:259775
Léri-Weill Dyschondrosteosis
Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ... ORPHA:240
Ogden Syndrome
Broad hallux, Underdeveloped nasal alae, Short columella, Proptosis, Scoliosis, Enlarged naris, D... ORPHA:276432
Clark-Baraitser Syndrome
Depressed nasal bridge, Sandal gap, Anteverted nares, Hypertelorism, Obesity, Clinodactyly, Short... OMIM:617752
Distal Deletion 12Q
Overlapping toe, Broad hallux, Failure to thrive in infancy, Short neck, Kyphoscoliosis, Wide ant... ORPHA:96149
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... ORPHA:968
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Hypertelorism, Small hand, Short foot, Cortic... ORPHA:93324
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Mpdu1-Cdg
Wide anterior fontanel ORPHA:79323
Shashi-Pena Syndrome
Short metacarpal, Broad nasal tip, Hypertelorism, Kyphosis, Osteoporosis, Proptosis, Scoliosis, C... OMIM:617190
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Deeply set ... OMIM:601559
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... ORPHA:95717
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Short neck, Hypertelorism, Kyphosis, Hip dislocation, Short nose, Failure... OMIM:608776
20Q13.33 Microdeletion Syndrome
Hallux valgus, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Tapered fi... ORPHA:261311
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Short neck, Hypertelorism, ... OMIM:613544
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Sandal gap, Sacral dimple, Depressed nasal bridge, Capitate-ha... OMIM:206920
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Congenital hip dislocation, Hypertelorism, Increased body weight, Worm... OMIM:614450
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Achondrogenesis Type 1A
Anteverted nares, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short foot, ... ORPHA:93299
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short neck, Tapered finger, Hypertelorism, Obesity, Wide nasal bridge, Proptosis, Thoracic kyphos... OMIM:620250
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Anteverted nares, Wide nose, Postaxial polydactyly... OMIM:619185
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Sacral dimple, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Hypertelo... OMIM:616331
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Hypertelorism, Bulbous nose, Wide nasal bridge, Hypotelorism, Deeply set eye, C... OMIM:613604
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa... ORPHA:90652
Fg Syndrome 5
Depressed nasal bridge, Short nose, Anteverted nares, Metopic synostosis OMIM:300581
Cinca Syndrome
Joint dislocation, Delayed closure of the anterior fontanelle, Abnormal joint morphology, Reduced... ORPHA:1451
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Short neck, Progressive intervertebral... ORPHA:1716
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Toriello-Carey Syndrome
Short neck, Wide anterior fontanel, Clinodactyly, Short nose, Brachydactyly ORPHA:3338
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Sacral dimple, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depresse... ORPHA:1327
Chitayat Syndrome
Hallux valgus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Short columella, Proptosi... OMIM:617180
Hennekam-Beemer Syndrome
Wide nose, Camptodactyly of finger, Long nose, Wide nasal bridge, Proptosis, Scoliosis, Clinodact... ORPHA:2135
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Large for gestation... OMIM:615398
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Hypertelorism, Shor... ORPHA:401935
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... ORPHA:163654
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Wide anterior fontanel, Anteverted nares, Scoliosis, Broad nasal tip OMIM:618548
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Hypertelorism, Limitation of joint mobility, Abnormality of the ... ORPHA:1486
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Wide nose, Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Devia... ORPHA:391408
Thoracomelic Dysplasia
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype... ORPHA:1803
Even-Plus Syndrome
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor... OMIM:616854
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... OMIM:259410
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Proptosis, Small for gestational age, Increased body weight OMIM:274300
Baker-Gordon Syndrome
Joint laxity, Prominent nasal tip, Short nose, Scoliosis OMIM:618218
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Long fingers, Wid... OMIM:618371
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Anteverted nares, Hypertelorism, Abnormality of the elbo... ORPHA:2701
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Prominent na... ORPHA:2215
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypertelorism, Polydactyly, Short nose, Hypoplastic ischia OMIM:616910
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplast... OMIM:119600
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dyspl... ORPHA:544503
Sponastrime Dysplasia
Aplasia of the nasal bone, Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal wide... ORPHA:93357
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Wide nasal bridge, Depressed nasal tip, Wormian bones, Brachydactyly ORPHA:2863
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p... ORPHA:93296
Burn-Mckeown Syndrome
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bridge, Craniosynostosis... OMIM:616914
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... OMIM:609945
Achondrogenesis Type 1B
Anteverted nares, Short neck, Abnormal enchondral ossification, Short foot, Short nose ORPHA:93298
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture, Limb joint contra... OMIM:620369
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Sacral dimple, Hypertelorism, Preaxial hand polydactyly,... ORPHA:2211
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Short neck, Wide nasal bridge, ... ORPHA:1147
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan... ORPHA:87
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Failure to thrive, Proptosis, Short finger OMIM:242500
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Overweight, Hypertelorism, Flexion contracture, Recurrent upper respiratory trac... ORPHA:391372
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Anteverted nares, Broad nasal tip, Hypertelorism, Wide nasal bridge, Pr... OMIM:618529
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:277440
Orofaciodigital Syndrome Xvii
Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Part... OMIM:617926
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short nose, Spina bifida occulta ORPHA:1514
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Coxa valga, Hypertelorism, Hammertoe, Distal arthrogryposis, Hip dysplasi... OMIM:619833
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Proptosis, Oste... ORPHA:90153
Short Stature With Microcephaly And Distinctive Facies
Osteopenia, Syndactyly, Small for gestational age, Anteverted nares, Proximal placement of thumb,... OMIM:615789
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Hypoplast... OMIM:200600
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Microcephaly 5, Primary, Autosomal Recessive
Proptosis OMIM:608716
Prolidase Deficiency
Arachnodactyly, Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Reduced bone minera... ORPHA:742
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypertelorism, Coxa valga, Hip dislocation, Abnormality of the vertebral column, Proptosis OMIM:109120
Rhiny
Short nose, Anteverted nares OMIM:180360
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Short neck, ... OMIM:305400
Autosomal Dominant Omodysplasia
Short humerus, Depressed nasal bridge, Hypertelorism, Elbow dislocation, Patellar dislocation, Sh... ORPHA:93328
Achondrogenesis
Anteverted nares, Short neck, Abnormal enchondral ossification, Abnormality of bone mineral densi... ORPHA:932
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge, Hypertelorism ORPHA:438178
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Postaxial... OMIM:211750
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Delayed cranial suture closure, Shallow orbits ORPHA:1129
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Sacral dimple, Anteverted nares, Short nose ORPHA:531
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Stickler Syndrome
Joint dislocation, Osteoarthritis, Depressed nasal ridge, Abnormal form of the vertebral bodies, ... ORPHA:828
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Choa... OMIM:269150
Trisomy 12P
Hypertelorism, Short neck, Wide nasal bridge, Proptosis, Clinodactyly of the 5th finger, Short nose ORPHA:1699
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... ORPHA:3103
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Small for gestational age OMIM:245570
Harel-Yoon Syndrome
Deeply set eye, Hip dysplasia, Short nose, Scoliosis OMIM:617183
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Joint stiffness, Hypertelorism, Anosmia, Genu valgum, Abnormal metacarpal morpholo... ORPHA:1295
Larsen Syndrome
Finger syndactyly, Depressed nasal bridge, Craniosynostosis, Large joint dislocations, Hypertelor... ORPHA:503
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Hypertelorism, Small hand, W... OMIM:145420
3C Syndrome
Finger syndactyly, Depressed nasal bridge, Short neck, Hypertelorism, Kyphosis, Hemivertebrae, Wi... ORPHA:7
Pontocerebellar Hypoplasia, Type 3
Proptosis, Depressed nasal bridge, Decreased body weight OMIM:608027
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Joint contracture, Proptosis, Scoliosis OMIM:617481
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Anteverted nares, Short neck, Broad nasal tip, Kyphosis, Bulbous nose,... OMIM:300966
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Sandal gap, Anteverted nares, Short toe, Clinodactyly of the 5th finger, Short nose, ... OMIM:617877
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered finger, Gen... OMIM:619721
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Hypertelorism, 2-3 toe syndactyly, Deeply set eye, Clin... OMIM:613443
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, Delayed closure of ... OMIM:224300
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Joint stiffness, Long fingers, Ulnar deviation of finger, Shor... ORPHA:1895
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Osteoporosis, Proptosis, Scoliosis, Joint contracture, Convex nasal ridge OMIM:615381
Marshall Syndrome
Radial bowing, Anteverted nares, Depressed nasal bridge, Coxa valga, Hypoplastic ilia, Hypertelor... OMIM:154780
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:241530
Peho-Like Syndrome
Short nose, Tapered finger OMIM:617507
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin... ORPHA:794
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologic fracture, De... ORPHA:90349
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypertelorism, Long fingers, Flexion contracture, 2-3 toe syndactyly, Wide nasal ... OMIM:218000
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Vertebral clefting, Increased susceptibility to fractures, ... OMIM:241500
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Short long bone, Stillbirth, Scoliosis, Camptodactyly, Neonatal death OMIM:619751
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Anteverted nares, Hypertelorism, Increased intervertebra... OMIM:619727
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, ... OMIM:250420
Craniosynostosis 2
Craniosynostosis, Unicoronal synostosis, Hypotelorism, Triphalangeal thumb, Metopic synostosis, W... OMIM:604757
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Hypertelorism, Choanal ste... OMIM:619859
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Short nose, Scoliosis, Hypotelorism OMIM:615042
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Hypertelorism, Vertebral clefting, Hemivertebrae, 2-3 toe syndactyl... OMIM:614701
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Hypertelorism, Wide nasal bridge, Proptosis, Short nose OMIM:618437
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Prominent nasal bridge, Postaxial polydactyly, Limited elbow move... ORPHA:221120
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... OMIM:131300
Oculodentodigital Dysplasia
Abnormal form of the vertebral bodies, Hypotelorism, Deeply set eye, Clinodactyly of the 5th fing... ORPHA:2710
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... OMIM:607634
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Abnormality of the knee, Wide nose, Lumbar hyperlordosis, Broad hallux, Prominent nas... ORPHA:251028
Mohr Syndrome
Syndactyly, Wormian bones, Depressed nasal bridge, Broad nasal tip, Bifid nasal tip, Preaxial han... OMIM:252100
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Wide nose, Duplication of thumb phalanx, Joint stiffness, Short neck, Pr... ORPHA:2995
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Craniosynostosis, Proptosis, Choanal stenosis, Short nose ORPHA:1790
Peters-Plus Syndrome
Joint laxity, Syndactyly, Short metacarpal, Proximal placement of thumb, Limited elbow movement, ... OMIM:261540
Smith-Magenis Syndrome
Toe syndactyly, Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Joint sti... ORPHA:819
Costello Syndrome
Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Limited elbow ... OMIM:218040
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Depressed nasal ridge, Me... ORPHA:163966
Au-Kline Syndrome
Prominent metopic ridge, Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polyd... OMIM:616580
Fetal Hydantoin Syndrome
Hypertelorism, Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Triphala... ORPHA:1912
Spondylometaphyseal Dysplasia, Sedaghatian Type
Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow grea... OMIM:250220
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal bridge, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Hype... OMIM:607872
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short long bone, Sacral dimple, Vertebral segmentation defect OMIM:618845
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Anteverted nares, Depressed nasal bridge, Prominent nose, Hyperteloris... OMIM:618316
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Depressed nasal bridge, Craniosynostosis, Joint stiffness, Short neck, ... ORPHA:309282
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Sandal gap, Depressed nasal bridge, Tapered finger, Bulbous nose, Obesity, Deeply set eye, Scolio... OMIM:618430
Autosomal Recessive Robinow Syndrome
Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostosis of carpal b... ORPHA:1507
Al-Raqad Syndrome
Joint laxity, Sandal gap, Deeply set eye, Short nose, Brachydactyly OMIM:616459
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Prominent nose, Long nose, Abnor... ORPHA:2636
Coffin-Siris Syndrome 6
Depressed nasal bridge, Kyphoscoliosis, Broad nasal tip, Wormian bones, Clinodactyly, Brachydactyly OMIM:617808
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, Preaxial polyda... OMIM:210710
Trisomy 20P
Finger syndactyly, Anteverted nares, Camptodactyly of finger, Short neck, Hypertelorism, Preaxial... ORPHA:261318
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Camptodactyly of finger ORPHA:1495
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Short nose, Scoliosis ORPHA:2598
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Rocker bottom foot OMIM:618506
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck, Tapered finger, Underdeveloped nasal alae, Bulbous nose, Wide nasal b... OMIM:615803
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... ORPHA:289157
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Deeply set eye, Clin... OMIM:618828
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Broad nasal tip, Hypertelorism, Wide nasal bridge, Shortening of all distal phalang... OMIM:614749
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Dislocated radial head, Joint laxity, Anteverted nares, Hypertelorism, Os... OMIM:102500
Distal Duplication 5Q
Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Hypertelorism, Hy... ORPHA:96097
Musculocontractural Ehlers-Danlos Syndrome
Recurrent joint dislocation, Cervical kyphosis, Craniosynostosis, Tapered finger, Kyphoscoliosis,... ORPHA:2953
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:264700
Distal Deletion 9P
Hypertelorism, Short neck, Wide nasal bridge, Proptosis, Short nose, Brachydactyly ORPHA:1642
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... ORPHA:324964
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, Camptodactyly of fin... ORPHA:468631
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short... ORPHA:363417
Foxg1 Syndrome Due To 14Q12 Microdeletion
Prominent metopic ridge, Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Short nose ORPHA:261144
Mucolipidosis Ii Alpha/Beta
Osteopenia, Metaphyseal widening, Anteverted nares, Thoracolumbar kyphoscoliosis, Depressed nasal... OMIM:252500
Oculodentodigital Dysplasia, Autosomal Recessive
Wide cranial sutures, Broad long bones, Fifth finger distal phalanx clinodactyly, Underdeveloped ... OMIM:257850
Grant Syndrome
Wormian bones, Down-sloping shoulders, Tibial bowing OMIM:138930
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Hypertelorism, K... OMIM:616894
Hyperostosis Cranialis Interna
Anosmia, Proptosis, Osteosclerosis of the base of the skull, Calvarial hyperostosis, Hyposmia, Hy... OMIM:144755
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Joint contracture, Failure to thr... OMIM:618005
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal... ORPHA:93160
Anemia, Congenital Dyserythropoietic, Type Iv
Wide anterior fontanel, Weight loss OMIM:613673
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Sh... OMIM:115150
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Os odontoideum, Hip dislocation, Wormian bones, Delayed cranial suture ... OMIM:616603
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Prominent nasal bridge, Kyphoscoliosis, Large... ORPHA:457359
Tetrasomy 12P
Anteverted nares, Cachexia, Short neck, Hypertelorism, Joint hyperflexibility, Short nose ORPHA:884
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Deeply set eye, Concave nasal ridge, Short nose, Failur... OMIM:613038
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Joint laxity, Back pain, Toe syndactyly, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar ky... OMIM:619234
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the vertebral b... ORPHA:175
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Hypertelorism, Osteoarthritis, Wide nasal bridge, Genu ... ORPHA:560
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Deeply set eye, Prominent fingertip pads, Short nose OMIM:300558
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses ORPHA:1423
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Depressed nasal bridge, Short neck, Hypertelorism, Bulbous nose, Wide nasal bridge, A... ORPHA:369891
Harrod Syndrome
Arachnodactyly, Long nose, Kyphosis, Hypotelorism, Abnormal shoulder morphology, Joint hyperflexi... ORPHA:2115
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... ORPHA:95716
Autosomal Dominant Robinow Syndrome
Short neck, Hemivertebrae, Coxa vara, Abnormal form of the vertebral bodies, Short palm, Clinodac... ORPHA:3107
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Joint contracture, Short nose, Scoliosis OMIM:615419
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the ra... OMIM:617895
Beare-Stevenson Cutis Gyrata Syndrome
Anteverted nares, Overlapping toe, Craniosynostosis, Depressed nasal bridge, Choanal atresia, Pro... OMIM:123790
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... ORPHA:198
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fra... OMIM:618188
Chops Syndrome
Anteverted nares, Hypertelorism, Obesity, Proptosis, Tracheomalacia, Cervical C2/C3 vertebral fus... OMIM:616368
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Deeply set eye, Wide cranial sutures, Wide nasal bridge OMIM:619149
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Depressed nasal bridge, Long nose, Slender long bone, Deeply set eye, Scoliosis, Shor... OMIM:618590
Loeys-Dietz Syndrome 5
Arachnodactyly, Failure to thrive in infancy, Kyphoscoliosis, Prominent nasal bridge, Hypertelori... OMIM:615582
Menkes Disease
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Wormian bones OMIM:309400
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Depressed nasal bridge, Large for gestational age, Hypertelorism, Osteo... ORPHA:363705
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Small for gestational age, Craniosynostosis, Bulbous nose, Hypotelorism, ... OMIM:614114
Restrictive Dermopathy 2
Convex nasal ridge, Overtubulated long bones, Short clavicles, Proptosis OMIM:619793
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Hypertelorism, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fing... OMIM:615716
Bohring-Opitz Syndrome
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Anteverted nares, Depre... ORPHA:97297
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Reduced bone ... ORPHA:1508
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Short neck, Pr... ORPHA:363528
Down Syndrome
Joint laxity, Sandal gap, Depressed nasal bridge, Short neck, Depressed nasal ridge, Obesity, Abn... ORPHA:870
Greenberg Dysplasia
Multiple prenatal fractures, Patchy variation in bone mineral density, Depressed nasal ridge, Tet... OMIM:215140
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Choanal atresia, Aplasia/Hypop... OMIM:151050
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Camptodactyly, ... OMIM:610015
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphalangeal thumb ... OMIM:613870
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Underdeveloped nasolabial fold, Overlapping toe, Anteverted nares, Short nec... ORPHA:177907
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Hypertelorism, Small hand, Short foot, Slender long b... OMIM:244460
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Camptodactyly of finger, Hyp... ORPHA:2008
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Limitation of joint mobility, Camptodactyly of finger, Symphalangism affecting the ph... ORPHA:2547
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... ORPHA:2658
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Ab... ORPHA:666
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Metaphyseal widening, Femoral bowin... ORPHA:440354
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Prominent nasal bridge, Camptodactyly of finger, Short neck, Underdeveloped nasal alae, Short nos... ORPHA:2083
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Postaxial hand polydactyly, Hip dislocation, Postaxial fo... OMIM:241800
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Tapered finger, Obesity, Short nose, Long hallux OMIM:619854
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Deeply set eye, Hip dysplasia, Short nose, Scoliosis ORPHA:496790
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Hypertelorism, Radial club hand, Proptosis, Cyclopia ORPHA:2165
Catel-Manzke Syndrome
Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Short neck, Hypert... OMIM:616145
Nablus Mask-Like Facial Syndrome
Sandal gap, Anteverted nares, Short hallux, Tapered finger, Craniosynostosis, Short neck, Depress... OMIM:608156
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Depressed nasal bridge, Anteverted nares, Choanal atresia, Craniosynostosis, Hypertelorism, Propt... ORPHA:1555
5Q14.3 Microdeletion Syndrome
Deeply set eye, Short nose, Toe syndactyly, Anteverted nares ORPHA:228384
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Delayed cranial suture closure, Depressed nasal bridge, Decreased fibular... OMIM:619127
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Hypertelorism, Preaxial hand polydactyly, Foot polydactyly, Short nose ORPHA:210548
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Hypotelorism, Contractures of the large joints, Scoliosis, Short nose, Failure to thrive ORPHA:329178
Prolidase Deficiency
Depressed nasal bridge, Hypertelorism, Concave nasal ridge, Proptosis, Short nose, Failure to thrive OMIM:170100
Moebius Syndrome
Syndactyly, Brachydactyly, Abnormal nasopharynx morphology, Depressed nasal bridge, Short neck, H... OMIM:157900
Pediatric-Onset Graves Disease
Small anterior fontanelle, Failure to thrive, Proptosis, Craniosynostosis ORPHA:525731
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Prominent nasal bridge, Joint stiffness, Long nose, Short long bone, Scolio... OMIM:619184
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n... ORPHA:357074
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Wrist flexion contracture, Increased bone mineral density, Abnormally ossi... ORPHA:800
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Hypoplastic ischia, Bowing of the legs, Hypertelorism, Metopic depression, Decreased ... ORPHA:313855
Microcephaly-Capillary Malformation Syndrome
Wide nose, Small for gestational age, Hypertelorism, Clinodactyly, Failure to thrive, Short dista... OMIM:614261
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Sandal gap, Depressed nasal bridge, Tapered finger, Hypertelorism, Kyphosis, Bulbous nose, 2-3 to... OMIM:617061
Juvenile Nasopharyngeal Angiofibroma
Nasal congestion, Proptosis, Epistaxis ORPHA:289596
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Anteve... OMIM:213980
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... ORPHA:1234
Developmental And Epileptic Encephalopathy 80
Tapered finger, Hypertelorism, Wide nasal bridge, Proptosis, Triphalangeal thumb, Failure to thri... OMIM:618580
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Short neck, Metaphyseal widening, Limitation of joint... OMIM:224400
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Sandal gap, Narrow nose, Long nose, Kyphosis, Deeply set eye, Scoliosis, Camptoda... OMIM:617602
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Long nose... ORPHA:261211
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Hypertelorism, Aplasi... ORPHA:364577
Baraitser-Winter Syndrome 1
Anteverted nares, Short neck, Hypertelorism, Duplication of phalanx of hallux, Wide nasal bridge,... OMIM:243310
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Decreased skull ossification, Partial absence of toe, Anteverted nares, H... ORPHA:955
3Mc Syndrome 2
Prominent nasal bridge, Limited elbow movement, Craniosynostosis, Hypertelorism, Hip dislocation,... OMIM:265050
Aymé-Gripp Syndrome
Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered fi... ORPHA:1272
Encephalopathy Due To Sulfite Oxidase Deficiency
Deeply set eye, Short nose ORPHA:833
Trisomy 10P
Thumb contracture, Wide cranial sutures, Small for gestational age, Anteverted nares, Depressed n... ORPHA:171929
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... OMIM:187600
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Thick nasal alae, Antev... OMIM:303600
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Hypertelorism, Flexion contracture, Osteoporosis, Rickets, Depressed na... ORPHA:2671
Denys-Drash Syndrome
Neonatal death, Wide anterior fontanel OMIM:194080
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects... OMIM:259100
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Hypertelorism, Preaxial han... ORPHA:280
Perlman Syndrome
Deeply set eye, Short nose, Anteverted nares, Wide nasal bridge ORPHA:2849
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Sandal gap, Hypertelorism OMIM:300887
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Proximal placement of thumb, Clinodactyly of the 5th f... OMIM:618619
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Small for gestational age, Anteverted nares, Kyphoscoliosis... ORPHA:97360
Intellectual Disability, Buenos-Aires Type
Hypertelorism, Wide nasal bridge, Reduced bone mineral density, Abnormal pelvic girdle bone morph... ORPHA:3079
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... ORPHA:3472
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Hypertelorism, Depressed nasal... OMIM:616038
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Flexion contracture, Osteoporosis, Scoliosis, Short nose, Failure to thrive OMIM:615851
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic girdle bone ... ORPHA:2928
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Proptosis, Decreased ost... OMIM:259720
Meckel Syndrome, Type 8
Depressed nasal ridge, Short nose, Polydactyly, Short neck OMIM:613885
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Geleophysic Dysplasia 1
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, S... OMIM:231050
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Large fontanelles, Short clavicles, Lambdoidal craniosynosto... OMIM:603116
Myhre Syndrome
Short neck, Deeply set eye, Hypoplastic iliac wing, Vertebral fusion, Hypertelorism, Short toe, 2... OMIM:139210
Pallister-Killian Syndrome
Congenital hip dislocation, Short neck, Flexion contracture, Camptodactyly of 2nd-5th fingers, Sh... OMIM:601803
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoepiphyses of the metacarpals, Shor... OMIM:194190
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Joint swelling, Proptosis... ORPHA:35687
Craniosynostosis And Dental Anomalies
Hallux valgus, Prominent metopic ridge, Wide nose, Broad hallux, Depressed nasal bridge, Sagittal... OMIM:614188
Chondrodysplasia Punctata 2, X-Linked Dominant
Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral calcificatio... OMIM:302960
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Elbow co... OMIM:208150
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Small anterior fontanelle, Short nose, Depressed nasal bridge, Ankle flexion contracture OMIM:617802
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Anteverted nares, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal ... ORPHA:444077
Localized Scleroderma
Abnormality of the nose, Flexion contracture, Arthritis, Deeply set eye, Proptosis, Sclerosis of ... ORPHA:90289
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... ORPHA:3342
Laron Syndrome
Abnormal joint morphology, Short long bone OMIM:262500
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Abnormality of the vertebral spinous processes, Depressed nasal... ORPHA:1299
Intellectual Developmental Disorder, Autosomal Dominant 1
Sandal gap, Prominent nose, Hypertelorism, Bulbous nose, Hemivertebrae, Depressed nasal ridge, Sh... OMIM:156200
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Anteverted nares, Broad hallux, Depressed nasal bridge, Hypertelorism, Bulbous nose, Short nose OMIM:614105
Intellectual Developmental Disorder, X-Linked 21
Short nose, Joint hypermobility, Hypertelorism OMIM:300143
Dermotrichic Syndrome
Depressed nasal bridge, Abnormal vertebral morphology, Short nose ORPHA:99688
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly, Short nose, Cachexia ORPHA:1389
Microhydranencephaly
Multiple joint contractures, Prominent nasal bridge, Proptosis OMIM:605013
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Hypertelorism, Deeply set eye, Clinodactyly, Short nose OMIM:618087
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Failure to thrive, Anteverted nares, Metopic synostosis OMIM:613735
Melanocytic Nevus Syndrome, Congenital
Anteverted nares, Narrow nasal ridge, Hypertelorism, Broad nasal tip, Short nose OMIM:137550
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Multiple joint contractures, Cl... ORPHA:264450
Silver-Russell Syndrome 1
Syndactyly, Small for gestational age, Short distal phalanx of the 5th finger, Clinodactyly of th... OMIM:180860
Cinca Syndrome
Arthritis, Proptosis, Patellar overgrowth OMIM:607115
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypertelorism, Wide nasal bridge, Proptosis ORPHA:1908
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Clinodactyly of the 4th finger, ... ORPHA:485405
Alkuraya-Kucinskas Syndrome
Overlapping toe, Anteverted nares, Depressed nasal bridge, Hypertelorism, Cutaneous syndactyly, H... OMIM:617822
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... OMIM:216340
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Short ... ORPHA:251071
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Short neck, Hypertelorism, Proptosis, Brachydactyly OMIM:614800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... ORPHA:85167
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Wide nasal bridge, Short long bone, Neonatal death, Pterygium, Anisospo... OMIM:224410
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Short distal phalanx of toe, Short nose, Bilateral triphalangeal thumbs, Short ... OMIM:619356
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplasia, Abnormal form o... ORPHA:1788
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Hypertelorism, Short neck, Postaxial hand polydactyly, Short nose OMIM:200995
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Hypertelorism, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck... OMIM:617159
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Small for gestational age, Craniosynostosis, Tapered finger, Depressed nasal bri... OMIM:309590
De Barsy Syndrome
Osteopenia, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Kyphoscoliosi... ORPHA:2962
Wiedemann-Rautenstrauch Syndrome
Short neck, Flexion contracture, Hypotelorism, Deeply set eye, Genu varum, Long toe, Anteverted n... OMIM:264090
Omodysplasia 1
Short humerus, Increased fibular diameter, Depressed nasal bridge, Short neck, Limited knee flexi... OMIM:258315
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Short nose OMIM:618774
Tenorio Syndrome
Osteopenia, Joint laxity, Wide nose, Anteverted nares, Scoliosis, Delayed cranial suture closure OMIM:616260
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Po... ORPHA:46059
Okamoto Syndrome
Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hyp... ORPHA:2729
Geleophysic Dysplasia 2
Ovoid vertebral bodies, Joint stiffness, Hypertelorism, Limitation of joint mobility, Cone-shaped... OMIM:614185
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Polydactyly, Short nose ORPHA:314655
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Broad nasal tip, Hypertelorism, Short toe, Wide nasal bridge, Delayed ossificatio... OMIM:239300
Aredyld Syndrome
Craniofacial hyperostosis, Cachexia, Abnormal nasal morphology, Abnormal pelvic girdle bone morph... ORPHA:1133
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Narrow nose, Underdeveloped nasal alae, 4-5 finger syndact... OMIM:164200
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Arachnodactyly, Bulbous nose, Short nose, Failure to thrive OMIM:616420
Beckwith-Wiedemann Syndrome
Otosclerosis, Prominent metopic ridge, Large for gestational age, Wide anterior fontanel, Large f... ORPHA:116
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Hypertelorism, Kyphosis, Sclerosis of skull base, Scoliosis, Wormia... OMIM:130720
Non-Distal Duplication 13Q
Postaxial hand polydactyly, Arachnodactyly, Short nose, Hypotelorism ORPHA:1702
Monosomy 9Q22.3
Short neck, Large for gestational age, Kyphosis, Joint hyperflexibility, Abnormality of the verte... ORPHA:77301
X-Linked Intellectual Disability, Snyder Type
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Anteverted nares, Prominent nasal ... ORPHA:3063
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Arachnodactyly, Prominent nasal bridge, Hyperlordosis, Large for gestational age, K... OMIM:617011
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Tracheobronchomalacia, Deeply set eye, Anteverted nares,... OMIM:613458
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Deeply set eye... OMIM:613457
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory tract infect... OMIM:614069
Ohdo Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Clinodactyly of the 5t... OMIM:249620
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Short nos... OMIM:616430
White-Sutton Syndrome
Joint laxity, Depressed nasal bridge, Short neck, Broad nasal tip, Hypertelorism, Obesity, Hypopl... OMIM:616364
White-Kernohan Syndrome
Joint laxity, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Hypot... OMIM:619426
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Short neck, Hypertelorism, Bulbous nose, Wide nasal bridge, Scoliosis, Short nose OMIM:618571
Meier-Gorlin Syndrome 1
Genu recurvatum, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Cutaneous finger syndact... OMIM:224690
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, H... OMIM:227330
Dend Syndrome
Clinodactyly of the 4th finger, Prominent metopic ridge, Anteverted nares, Short nose ORPHA:79134
Silver-Russell Syndrome
Sandal gap, Failure to thrive in infancy, Cachexia, Obesity, Abnormal appendicular skeleton morph... ORPHA:813
Cornelia De Lange Syndrome 1
Depressed nasal bridge, Choanal atresia, Proximal placement of thumb, Short neck, Anteverted nare... OMIM:122470
Kosaki Overgrowth Syndrome
Depressed nasal bridge, Thoracolumbar scoliosis, Wide nasal bridge, Proptosis, Scoliosis OMIM:616592
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b... ORPHA:3429
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Scoliosis, Short nose, Failure to thrive OMIM:619179
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, Knee flexion contracture, Shallow orbits, Phocomelia, Wrist flexion ... OMIM:268300
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valga, Short neck, Hypertelori... ORPHA:263508
Meier-Gorlin Syndrome 6
Sandal gap, Small for gestational age, Anteverted nares, Depressed nasal bridge, Underdeveloped n... OMIM:616835
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Short lo... OMIM:200610
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormality of the fontanelles or cranial sutures, Hypotelo... ORPHA:3378
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint stiffness, Kyphosis, Scoliosis, Short nose, Failure to thrive, Join... OMIM:617988
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Prominent nose, Hypertelorism, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Trisomy 18
Cyclopia, Camptodactyly of finger, Cachexia, Choanal atresia, Hypertelorism, Postaxial hand polyd... ORPHA:3380
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertelorism, Short neck, Postaxial hand polydactyly, Wide nasal bridge, Proptosis OMIM:235255
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Aplasia of the ulna, Short neck, Abnormal tibia morpholo... ORPHA:2879
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Broad hallux phalanx, Sacral dimple, Sandal gap, Small for gestational age, Craniosyn... ORPHA:363611
Proteus Syndrome
Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger... ORPHA:744
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge, Hypertelorism OMIM:612563
Warburg Micro Syndrome 3
Kyphoscoliosis, Flexion contracture, Ankle clonus, Clinodactyly of the 5th finger, Short nose OMIM:614222
Khan-Khan-Katsanis Syndrome
Sacral dimple, Delayed closure of the anterior fontanelle, Postaxial polydactyly, Joint contractu... OMIM:618460
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Houge-Janssens Syndrome 3
Hypertelorism, Proptosis, Broad nasal tip OMIM:618354
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small for gestational age, Depressed nasal bridge, Kyphoscoliosis, Hy... OMIM:268400
Graves Disease, Susceptibility To, 1
Proptosis, Weight loss OMIM:275000
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Obesity, Short nose OMIM:611936
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Small hand, Short palm, Clinodactyly of the 5th finger, Short nose, Spina bifi... ORPHA:1786
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Wide nose, Camptodactyly of finger, Choanal atresia, Hypert... ORPHA:2753
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Parietal Foramina 1
Wormian bones OMIM:168500
Degcags Syndrome
Osteopenia, Syndactyly, Sacral dimple, Toe syndactyly, Small for gestational age, Prominent nasal... OMIM:619488
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae, Hypertelorism ORPHA:163961
Frias Syndrome
Proptosis, Hypertelorism OMIM:609640
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Abnormal curvature of the vertebral column, Deeply set eye, Joint laxity, Anteverted n... OMIM:619475
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Choanal a... ORPHA:84
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Proptosis, Short palm, Short nose, Failure to thrive, Brachydactyly ORPHA:3339
Tetrasomy 18P
Short nose, Scoliosis ORPHA:3307
Rhyns Syndrome
Osteopenia, Radial bowing, Osteoporosis, Deeply set eye, Short long bone, Short femoral neck, Bra... OMIM:602152
Fetal Trimethadione Syndrome
Short nose, Depressed nasal bridge, Scoliosis ORPHA:1913
Holoprosencephaly 11
Proptosis, Hypotelorism OMIM:614226
Spinocerebellar Ataxia Type 3
Proptosis ORPHA:98757
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Tapered finger, Joint hyperflexibility, Six lumbar vertebrae, Clinodactyl... ORPHA:65286
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Craniosynostosis, Proboscis, Postaxial polydactyly, Hyp... OMIM:605627
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly... OMIM:146510
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Bulbous nose, Deeply set eye, Short nose ORPHA:284169
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Anteverted nares, Choanal atresia, Proximal placement of thumb, Short neck, Hy... ORPHA:818
Hallermann-Streiff Syndrome
Wormian bones, Small for gestational age, Prominent nasal bridge, Narrow nose, Hyperlordosis, Und... OMIM:234100
Developmental And Epileptic Encephalopathy 48
Proptosis OMIM:617276
Developmental Delay With Or Without Dysmorphic Facies And Autism
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Narrow nose, Hypertelorism, 2-3... OMIM:618454
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Anteverted nares, Ovoid vertebral bodies, Depressed nasal bridge, Hyp... OMIM:244450
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyphosis, Aplasia of the 1st... ORPHA:476126
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Small for gestational age ORPHA:289266
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili... ORPHA:3003
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Depressed nasal bridge, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 finger cutaneous s... OMIM:620029
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Gapo Syndrome
Thick nasal alae, Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Abnor... ORPHA:2067
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Hypertelorism, Finger clinodactyly, S... OMIM:601353
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Loeys-Dietz Syndrome 1
Joint laxity, Arachnodactyly, Craniosynostosis, Hypertelorism, Postaxial hand polydactyly, Cervic... OMIM:609192
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Prominent nose, Bulbous nose, Wide nasal bridge, Proptosis, Polydactyly, ... OMIM:301022
Wiedemann-Steiner Syndrome
Hyperextensibility at elbow, Sacral dimple, Tapered finger, Hypertelorism, Abnormality of the elb... ORPHA:319182
Mandibuloacral Dysplasia
Narrow nose, Contractures of the large joints, Osteolytic defects of the distal phalanges of the ... ORPHA:2457
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Anteverted nares, Narrow ... OMIM:601358
Meester-Loeys Syndrome
Joint dislocation, Arachnodactyly, Hypertelorism, Cervical spine instability, Proptosis, Broad di... OMIM:300989
Malan Syndrome
Long fingers, Short nose, Scoliosis, Coxa valga OMIM:614753
Adenylosuccinase Deficiency
Prominent metopic ridge, Anteverted nares, Short nose OMIM:103050
Optic Pathway Glioma
Proptosis ORPHA:2086
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Hypertelorism, Wide nasal bridge, Shortening of all distal phalanges of the fing... OMIM:614207
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Underdeveloped nasal alae, Flexion contracture, Increased susceptibility to ... ORPHA:435628
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Me... OMIM:250250
Elsahy-Waters Syndrome
Wide nose, Anteverted nares, Hypertelorism, Bifid nasal tip, Bulbous nose, Low hanging columella,... OMIM:211380
Microlissencephaly-Micromelia Syndrome
Short nose, Failure to thrive, Short neck, Adducted thumb ORPHA:50810
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, Tapered finger, Kyphosis, H... OMIM:301040
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Increased skull ossification, Abnormal shoulder morphology, D... ORPHA:1422
Pterygium Colli, Isolated
Short nose OMIM:177990
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Flexion contracture, Deeply set eye, Short nose, Clinoda... OMIM:614225
Zttk Syndrome
Depressed nasal bridge, Craniosynostosis, Kyphosis, Flexion contracture, Small hand, Hemivertebra... OMIM:617140
Vascular Malformation, Primary Intraosseous
Proptosis OMIM:606893
Diamond-Blackfan Anemia 1
Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ... OMIM:105650
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... OMIM:610168
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Multiple prenatal fractures, Bulbous nose, Wormian bones, Vertebral compression f... OMIM:618644
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Failure to thrive in infancy, Choanal atresia, Proptosis, Camptodactyly, Clinodactyly ORPHA:228426
Rhombencephalosynapsis
Finger syndactyly, Anteverted nares, Hypertelorism, Polydactyly, Complete duplication of thumb ph... ORPHA:59315
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... ORPHA:90674
D-Bifunctional Protein Deficiency
Osteopenia, Depressed nasal bridge, Hypertelorism, Split hand, Large fontanelles, Hammertoe, Fail... OMIM:261515
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Hypertelorism, Wide nasal bridge, Arthritis, Anteri... ORPHA:93
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Wide nose, Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Small for ges... OMIM:201750
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Broad nasa... OMIM:617157
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormality of the vertebral spinous processes, Abnormal tibia morphology, Abnormalit... ORPHA:909
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Anteverted nares, Wide nasal bridge, Joint contracture of the hand, Polydactyly, C... OMIM:247200
Arboleda-Tham Syndrome
Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Craniosynostosis, Prominent nas... OMIM:616268
Fetal Alcohol Syndrome
Vertebral segmentation defect, Anteverted nares, Short nose, Joint stiffness ORPHA:1915
Curry-Jones Syndrome
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3... OMIM:601707
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Rocker bottom foot, Long fingers, Postaxial hand polydac... ORPHA:521426
Cerebrofaciothoracic Dysplasia
Wide nose, Short neck, Hypertelorism, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Sh... ORPHA:1394
Neu-Laxova Syndrome 1
Finger syndactyly, Wide nose, Toe syndactyly, Pterygium, Rocker bottom foot, Short neck, Hypertel... OMIM:256520
Chromosome 19Q13.11 Deletion Syndrome, Distal
Overlapping toe, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Cutaneous finger... OMIM:613026
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Metatarsus adductus, Premature osteoarthritis, Large fontanelles, 2-3 toe s... OMIM:611962
Microcephaly 3, Primary, Autosomal Recessive
Proptosis, Prominent nose OMIM:604804
Congenital Myopathy 17
Overlapping toe, Failure to thrive in infancy, Tapered finger, Distal arthrogryposis, Proptosis, ... OMIM:618975
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Abnormal morphology of ulna, Anteverted nares, Short neck, Depresse... ORPHA:1340
H Syndrome
Hallux valgus, Recurrent fractures, Recurrent pharyngitis, Osteolysis, Proptosis, Chronic rhiniti... ORPHA:168569
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Low hanging colum... OMIM:615866
Peho Syndrome
Short nose, Tapered finger OMIM:260565
Ayme-Gripp Syndrome
Depressed nasal bridge, Tapered finger, Hypertelorism, Wide nasal bridge, Radioulnar synostosis, ... OMIM:601088
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Underdeveloped nasal alae, Flexion contracture, Proptosis, Narrow naris, Sco... OMIM:614098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Hypertelorism, Short nose, Failure to thrive OMIM:242860
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Anteverted nares, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contr... OMIM:602782
Desmosterolosis
Increased bone mineral density, Depressed nasal bridge, Abnormality of the nose, Metatarsus adduc... ORPHA:35107
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Cyclopia, Hypotelorism... ORPHA:280200
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Hypertelorism, Abnormal form of the vertebral bodies, Abnorm... ORPHA:1834
Gm1 Gangliosidosis Type 1
Depressed nasal bridge, Broad nasal tip, Hypoplastic vertebral bodies, Flared iliac wing, Short l... ORPHA:79255
19P13.13 Microdeletion Syndrome
Sandal gap, Anteverted nares, Depressed nasal bridge, Hypertelorism, Long fingers, Deeply set eye... ORPHA:357001
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Hypertelorism, Wide nasal bridge, Scoliosis, Decreased b... OMIM:300749
Whipple Disease
Arthritis, Proptosis, Cachexia ORPHA:3452
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Kyphosis, Increased femoral ... OMIM:619005
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large join... OMIM:617527
Coffin-Siris Syndrome 12
Hypotelorism, Deeply set eye, Joint laxity, Anteverted nares, Depressed nasal bridge, Hypertelori... OMIM:619325
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose OMIM:614744
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Broad hallux, Anteverted nares, Tapered finger, Choanal atresia, Narrow nose,... OMIM:301044
Caudal Regression Syndrome
Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic ve... ORPHA:3027
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Generalized osteosclerosis, Joint contracture of the ... OMIM:602398
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cyclopia, Metatarsus valgus, S... ORPHA:261236
Micro Syndrome
Anteverted nares, Joint stiffness, Kyphosis, Wide nasal bridge, Scoliosis, Short nose ORPHA:2510
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Proptosis, Weight loss ORPHA:370348
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Joint dislocation, Arachnodactyly, Hypertelorism, Generalized joint laxity, Large f... OMIM:601776
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Short neck, Hypertelor... ORPHA:2308
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Kyphoscoliosi... ORPHA:2834
Trichohepatoenteric Syndrome 1
Wide nose, Anteverted nares, Small for gestational age, Hypertelorism, Avascular necrosis of the ... OMIM:222470
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Hypertelorism, Cortical thickening of long bo... ORPHA:93325
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short neck, Hyper... OMIM:257300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Choanal atresia, Underdeve... ORPHA:163979
Helsmoortel-Van Der Aa Syndrome
Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Joint laxity, Broad hall... OMIM:615873
Intellectual Developmental Disorder, X-Linked 98
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdeveloped nasal alae, Long... OMIM:300912
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Noonan Syndrome
Hypertelorism, Joint hyperflexibility, Radioulnar synostosis, Proptosis, Scoliosis, Clinodactyly ... ORPHA:648
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... OMIM:615503
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Hypotelorism, Short col... OMIM:142945
Peho Syndrome
Anteverted nares, Tapered finger, Flexion contracture, Limitation of joint mobility, Arthrogrypos... ORPHA:2836
Lathosterolosis
Toe syndactyly, Anteverted nares, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporos... OMIM:607330
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Depressed nasal bridge, Short neck, Overweight, Delayed proximal femo... ORPHA:226307
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Hypertelorism, Short foot, Proptosi... ORPHA:264200
Jacobsen Syndrome
Anteverted nares, Depressed nasal bridge, Short neck, Hypertelorism, Flexion contracture, Clinoda... OMIM:147791
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Hypertelorism, Decreased body weight, Neonatal death, A... OMIM:608013
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Sandal gap, Hypertelorism, Abnormal fibula morphology, Deeply set eye, Sh... ORPHA:1812
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Monosomy 9P
Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Short neck, Abnormality of... ORPHA:261112
Donohue Syndrome
Severe failure to thrive, Proptosis OMIM:246200
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Hypertelorism, Obesity, 2-3 toe syndactyly, Scoliosis, Hyposmia,... OMIM:618653
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Hypertelorism, Left unilam... OMIM:609942
Waardenburg Syndrome Type 1
Short nose, Wide nasal bridge, Scoliosis, Underdeveloped nasal alae ORPHA:894
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Proptosis, Abnorm... ORPHA:636
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Underdeveloped nasal alae, Joint stiffness, Hypertelorism, ... OMIM:604173
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Hyperteloris... ORPHA:1974
Macrocephaly/Autism Syndrome
Joint laxity, Depressed nasal bridge, Large for gestational age, Obesity, Short nose OMIM:605309
Alg12-Cdg
Wide nose, Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Prominent nasal... ORPHA:79324
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Scoliosis, Brachydactyly OMIM:613819
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Failure to thrive, Depressed nasal bridge, Broad columella OMIM:617865
17Q11 Microdeletion Syndrome
Osteopenia, Depressed nasal bridge, Bowing of the legs, Hypertelorism, Kyphosis, Osteoporosis, Os... ORPHA:97685
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anteverted nares, Depressed nasal bridge, Large for gestational age, Hypertelorism, Abnormal iliu... OMIM:614080
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Deeply set eye, Clinodactyly ... OMIM:136140
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Cachexia, Joint hyperflexibility, Scoliosis, Short nose, Broad thumb ORPHA:109
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Overlapping toe, Broad hallux, Sandal gap, Anteverted nares, Depressed nasal... OMIM:618332
Kleefstra Syndrome
Anteverted nares, Hypertelorism, Limitation of joint mobility, Obesity, Scoliosis, Tracheomalacia... ORPHA:261494
Carey-Fineman-Ziter Syndrome
Anteverted nares, Ulnar deviation of finger, Scoliosis, Short nose, Brachydactyly ORPHA:1358
Wyburn-Mason Syndrome
Proptosis, Epistaxis ORPHA:53719
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Proptosis, Femur fracture, Osteopetrosis OMIM:612301
Isolated Exencephaly
Proptosis, Depressed nasal bridge, Hypoplasia of the frontal bone ORPHA:563612
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Short middle phalanx of finger, Scoliosis, Shallow orbits,... OMIM:301030
Witteveen-Kolk Syndrome
Proximal placement of thumb, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Shallow ... OMIM:613406
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Short neck, Overlapping fingers, Short nose, Failure to thrive, Adducted thumb OMIM:608779
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Delayed closure of the anterior fontan... OMIM:127000
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Underdeveloped nasal alae ORPHA:2031
Simpson-Golabi-Behmel Syndrome, Type 1
Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Anteverted nares, Depres... OMIM:312870
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Small for gestational age, Gout, Hypotelorism, Short nose, Convex nasal r... OMIM:300661
Tyshchenko Syndrome
Proptosis OMIM:615102
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Failure to thrive, Hypoplastic scapulae, Camptodactyly of finger, Prominent nose, ... OMIM:256040
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Preaxial hand polydactyly, Short ... OMIM:610536
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Hypertelorism, Short toe, Wide nasal bridge, Proptosis... ORPHA:1519
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Sagittal craniosynostosis, Ab... ORPHA:500150
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Prominent ... ORPHA:268261
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Hypertelorism, Osteoarthriti... OMIM:613795
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe ... ORPHA:522077
Deeah Syndrome
Prominent nasal tip, Cervical hemivertebrae, Short neck, Scoliosis, Decreased body weight, Overla... OMIM:619004
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Short nose ORPHA:79113
Machado-Joseph Disease
Proptosis OMIM:109150
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Hypertelorism, Obesity, Short nose, Failure to thrive ORPHA:96147
Coffin-Siris Syndrome
Joint laxity, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Recurrent upper respirat... ORPHA:1465
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Short neck, Femoral bowing, Short long bone, Overlapping fingers,... OMIM:617022
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Small hand, Wide nasal bridge, Genu valgum, Hypoteloris... ORPHA:1449
1P36 Deletion Syndrome
Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Kyphosis, Depressed nasal ridge... ORPHA:1606
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Toluene Embryopathy
Short nose, Tapered finger ORPHA:1920
C Syndrome
Joint dislocation, Sacral dimple, Toe syndactyly, Failure to thrive in infancy, Anteverted nares,... ORPHA:1308
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Tapered finger, Wide nasal bridge, Short columella, Short nose OMIM:613603
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anteverted nares, Arachnodactyly, Depressed nasal bridge, Abnormal thumb morphology, Limitation o... ORPHA:2719
Viss Syndrome
Long toe, Joint laxity, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Prominen... OMIM:619472
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Depressed nasal bridge, Flexion contracture, Wide n... OMIM:619479
Cutis Laxa, Autosomal Recessive, Type Ib
Depressed nasal bridge, Arachnodactyly, Hypertelorism, Bulbous nose, Proptosis, Convex nasal ridg... OMIM:614437
Pallister-Hall Syndrome
Large for gestational age, Hemivertebrae, Depressed nasal ridge, Mesoaxial polydactyly, Radial bo... ORPHA:672
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Hypertelorism, Bifid nose, Midline defect of the nose, Short nose, Hyp... OMIM:229400
Oculoectodermal Syndrome
Proptosis, Depressed nasal bridge, Wide nasal bridge, Short neck OMIM:600268
Cornelia De Lange Syndrome
Toe syndactyly, Anteverted nares, Abnormal morphology of ulna, Proximal placement of thumb, Joint... ORPHA:199
Machado-Joseph Disease Type 1
Proptosis ORPHA:276238
Machado-Joseph Disease Type 2
Proptosis ORPHA:276241
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... ORPHA:565
Immunodeficiency 49
Wormian bones, Hypertelorism OMIM:617237
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proportionate shortening of all digits, Anteverted nares, Tapered finger, Short neck, Hypertelori... ORPHA:280633
Axenfeld-Rieger Syndrome, Type 3
Concave nasal ridge, Proptosis, Hypertelorism OMIM:602482
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Failure to thrive, Underdeveloped nasal alae ORPHA:2315
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Machado-Joseph Disease Type 3
Proptosis ORPHA:276244
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Depressed nasal bridge, Craniosynostosis, Tapered finger, Small hand, Depressed nasal tip, Hip dy... OMIM:620005
Familial Infantile Myoclonic Epilepsy
Proptosis ORPHA:352582
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... OMIM:225500
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Abnormal curvature of the vertebral c... ORPHA:90348
Renal And Mullerian Duct Hypoplasia
Short nose, Hypertelorism OMIM:266810
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Genu valgum, Deeply set eye, Abdominal obesity, Short nose, Convex nasal ridge OMIM:619321
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris, Hypertelorism OMIM:122880
Trichothiodystrophy 1, Photosensitive
Short nose, Flexion contracture, Small for gestational age OMIM:601675
Dural Sinus Malformation
Proptosis ORPHA:97339
1P21.3 Microdeletion Syndrome
Broad nasal tip, Obesity, Deeply set eye, Short nose, Joint hypermobility ORPHA:293948
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Prominent nose, Flexion co... OMIM:619503
Williams Syndrome
Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of... ORPHA:904
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Proptosis, Small for gestational age, Weight loss ORPHA:424
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Thoracic... ORPHA:505248
Waldenström Macroglobulinemia
Proptosis, Epistaxis ORPHA:33226
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Anteverted nares, Tapered finger, Long nose, Short thumb, Broad nasal tip, Bulbous nos... OMIM:619522
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Kyphoscoliosis, Joint stiffness, Hypertelorism, Short nose OMIM:618820
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Hypertelorism, Short neck, Wide nasal bridge, Short nose ORPHA:2282
Holoprosencephaly 7
Flat nasal alae, Hypertelorism, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal... OMIM:610828
Williams-Beuren Syndrome
Hallux valgus, Osteopenia, Joint laxity, Failure to thrive in infancy, Down-sloping shoulders, Ky... OMIM:194050
Beckwith-Wiedemann Syndrome
Prominent metopic ridge, Proptosis, Large fontanelles OMIM:130650
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares OMIM:234050
Hyperthyroidism, Nonautoimmune
Proptosis, Small for gestational age OMIM:609152
Zygomycosis
Nasal congestion, Epistaxis, Proptosis, Osteolysis ORPHA:73263
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Short nose, Hypertelorism OMIM:252160
Familial Gestational Hyperthyroidism
Proptosis, Weight loss ORPHA:99819
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... ORPHA:285
Meningioma
Back pain, Proptosis, Obesity, Abnormality of the sense of smell ORPHA:2495
Medulloblastoma
Back pain, Delayed cranial suture closure ORPHA:616
Granulomatosis With Polyangiitis
Proptosis, Abnormality of the nose, Epistaxis, Weight loss ORPHA:900
Peters Plus Syndrome
Sacral dimple, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short neck, Hyperteloris... ORPHA:709
Cadds
Short nose ORPHA:369942
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Sandal gap, Short neck, Broad nasal tip, Long fingers, Wide nasal bridge, Cutaneous... OMIM:620330
Holoprosencephaly 2
Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Hypotelorism, Proptosis, Sco... OMIM:157170
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Hypertelorism OMIM:252150
Proboscis Lateralis
Choanal atresia, Proboscis, Hypertelorism, Single naris, Proptosis, Cyclopia ORPHA:141099
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Narrow nasal bridge, Congenital hip dislocation, Hypertelorism, Osteoarthritis... ORPHA:286
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Narrow nasal ridge, Large fontanelles, Short nose, Failure to thrive OMIM:606721
Peroxisome Biogenesis Disorder 4B
Short nose, Hypertelorism OMIM:614863
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglot... OMIM:617088
Cherubism
Proptosis OMIM:118400
Liver Disease, Severe Congenital
Joint laxity, Depressed nasal bridge, Narrow nasal ridge, Proptosis, Failure to thrive OMIM:619991
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae OMIM:305100
Igg4-Related Dacryoadenitis And Sialadenitis
Proptosis, Weight loss ORPHA:79078
Juvenile Xanthogranuloma
Proptosis ORPHA:158000
Retinoblastoma
Proptosis ORPHA:790
Tropical Endomyocardial Fibrosis
Proptosis, Cachexia ORPHA:75565
Penile Agenesis
Short nose, Depressed nasal bridge ORPHA:49

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Itgb1bp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itgb1bp1.

No publications found that use IMPC mice or data for Itgb1bp1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Itgb1bp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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