Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Short neck, Thoracic kyphosis, Abnormal bone ossification, Abnormal femoral neck/head morphology,... |
ORPHA:163649 |
Brachydactyly, Type B1 |
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Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Rhizomelic Syndrome, Urbach Type |
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Abnormality of the knee, Depressed nasal bridge, Short neck, Abnormality of the humerus, Preaxial... |
ORPHA:3098 |
Chromosome 16Q22 Deletion Syndrome |
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Prominent metopic ridge, Small for gestational age, Broad hallux, Depressed nasal bridge, Short n... |
OMIM:614541 |
Achondroplasia |
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Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
Fibrochondrogenesis 1 |
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Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Osteogenesis Imperfecta, Type Iii |
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Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Short neck, Underdeveloped nasal alae, Wide anterior fontanel, Metaphyseal widening, Flexion cont... |
OMIM:263210 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Radial head subluxa... |
OMIM:614078 |
Teebi Hypertelorism Syndrome 2 |
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Syndactyly, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wide anterior fontanel, Propt... |
OMIM:619736 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
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Epiphyseal stippling, Wide anterior fontanel, Wide nasal bridge |
OMIM:614859 |
Osteogenesis Imperfecta, Type Viii |
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Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe... |
OMIM:610915 |
Anauxetic Dysplasia 3 |
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Beaking of vertebral bodies, Short metacarpal, Depressed nasal bridge, Joint hypermobility, Thora... |
OMIM:618853 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Sacral dimple, Anteverted nares, Depressed nasal bridge, Large for gestational age, Hypertelorism... |
OMIM:618272 |
Rhizomelic Syndrome |
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Complete duplication of thumb phalanx, Wide anterior fontanel, Hip dislocation, Bifid distal phal... |
OMIM:268250 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Joint laxity, Syndactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Broad n... |
OMIM:619451 |
Thanatophoric Dysplasia Type 1 |
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Bowing of the long bones, Short femur, Depressed nasal bridge, Joint stiffness, Hypoplastic ilia,... |
ORPHA:1860 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Brachydactyly, Anteverted nares, Depressed nasal bridge, Hypertelorism, Increased intervertebral ... |
OMIM:618961 |
Saul-Wilson Syndrome |
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Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... |
OMIM:618150 |
Ritscher-Schinzel Syndrome 3 |
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Hypoplasia of the ulna, Anteverted nares, Hypertelorism, Wide anterior fontanel, Ulnar bowing, Sh... |
OMIM:619135 |
Brachyolmia Type 1, Hobaek Type |
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Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
20P13 Microdeletion Syndrome |
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Finger syndactyly, Failure to thrive in infancy, Prominent nasal bridge, Hypertelorism, Wide ante... |
ORPHA:313781 |
Larsen-Like Syndrome |
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Joint laxity, Joint dislocation, Kyphoscoliosis, Hypertelorism, Wide anterior fontanel, Absent na... |
OMIM:608545 |
Pseudoachondroplasia |
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Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Acrofrontofacionasal Dysostosis 2 |
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Syndactyly, Sacral dimple, Wide nose, Broad hallux, Hypertelorism, Wide anterior fontanel, Hand p... |
OMIM:239710 |
Craniometadiaphyseal Dysplasia |
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Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,... |
OMIM:269300 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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Overlapping toe, Prominent nose, Hypertelorism, Wide anterior fontanel, Wide nasal bridge, Fibula... |
OMIM:201170 |
Lethal Osteosclerotic Bone Dysplasia |
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Anteverted nares, Short neck, Depressed nasal ridge, Large fontanelles, Proptosis, Short nose, De... |
ORPHA:1832 |
Desbuquois Dysplasia 1 |
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Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
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Epiphyseal stippling, Large posterior fontanelle, Wide anterior fontanel |
OMIM:614872 |
Acrocephalopolydactyly |
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Genu recurvatum, Short neck, Hypertelorism, Depressed nasal ridge, Short long bone, Premature clo... |
ORPHA:221054 |
Cleidocranial Dysplasia 2 |
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Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v... |
OMIM:620099 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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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 |
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Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Depressed nasal bridge, Small for gestational age, Failure to thrive in infancy, Hypertelorism, W... |
OMIM:617241 |
Fibrochondrogenesis |
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Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short ne... |
ORPHA:2021 |
Multiple Synostoses Syndrome 3 |
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Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
Frank-Ter Haar Syndrome |
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Osteopenia, Anterior concavity of thoracic vertebrae, Short palm, Short phalanx of finger, Cortic... |
OMIM:249420 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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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 |
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Ulnar deviation of the wrist, Anteverted nares, Hypertelorism, Unilambdoid synostosis, Wide nasal... |
OMIM:618577 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Acrocallosal Syndrome |
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Wide anterior fontanel, Postaxial hand polydactyly, Triphalangeal thumb, Hypertelorism |
ORPHA:36 |
Gomez-Lopez-Hernandez Syndrome |
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Anteverted nares, Craniosynostosis, Hypertelorism, Wide anterior fontanel, Wormian bones, Short nose |
OMIM:601853 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Wide nose, Iliac crest serration, Small for gestational age, Anteverted nares, Short neck, Wide d... |
OMIM:613320 |
Donnai-Barrow Syndrome |
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Depressed nasal bridge, Hypertelorism, Wide anterior fontanel, Proptosis, Short nose |
ORPHA:2143 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
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Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Large fontanelles, Failure to t... |
OMIM:614883 |
Marshall-Smith Syndrome |
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Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Hypertelorism, Inc... |
ORPHA:561 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
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Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Hypoplasia of the odon... |
ORPHA:85172 |
Osteogenesis Imperfecta, Type Vii |
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Osteopenia, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral retroversion,... |
OMIM:610682 |
Desbuquois Syndrome |
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Genu recurvatum, Camptodactyly of finger, Anteverted nares, Coxa valga, Elbow dislocation, Short ... |
ORPHA:1425 |
Lethal Kniest-Like Dysplasia |
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Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... |
ORPHA:2347 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Van Maldergem Syndrome 1 |
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Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Hypertelo... |
OMIM:601390 |
Smith-Kingsmore Syndrome |
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Depressed nasal bridge, Large for gestational age, Short proximal phalanx of finger, Wide anterio... |
OMIM:616638 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Craniolenticulosutural Dysplasia |
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Osteopenia, Joint laxity, Anteverted nares, Prominent nasal bridge, Delayed closure of the anteri... |
OMIM:607812 |
Osteogenesis Imperfecta, Type V |
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Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Cutis Laxa, Autosomal Recessive, Type Iia |
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Congenital hip dislocation, Anteverted nares, Wide anterior fontanel, Scoliosis, Short nose, Fail... |
OMIM:219200 |
Ritscher-Schinzel Syndrome 2 |
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Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Hypertelorism, Wide anterior ... |
OMIM:300963 |
Otospondylomegaepiphyseal Dysplasia |
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Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Wide anterior fontanel, Failure to thrive in infancy, Deeply set eye |
OMIM:619064 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Tetrasomy 5P |
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Overlapping toe, Anteverted nares, Short hallux, Short neck, Hypertelorism, Long fingers, Wide an... |
ORPHA:3309 |
Van Maldergem Syndrome 2 |
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Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Depressed... |
OMIM:615546 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
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Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Anteverted nares, Large tarsal bones... |
OMIM:215150 |
Stickler Syndrome Type 1 |
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Osteoarthritis, Joint hyperflexibility, Platyspondyly, Proptosis, Abnormal epiphysis morphology, ... |
ORPHA:90653 |
Kleeblattschaedel |
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Proptosis, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Dysostosis, Stanescu Type |
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Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Persistent open an... |
ORPHA:1798 |
Heart And Brain Malformation Syndrome |
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Prominent metopic ridge, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Hyper... |
OMIM:616920 |
Vitamin K Antagonist Embryofetopathy |
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Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Hypertelorism, Punctate ve... |
ORPHA:1914 |
Intellectual Developmental Disorder, X-Linked 91 |
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Small hand, Obesity, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose |
OMIM:300577 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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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 |
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Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Short neck, Hy... |
OMIM:217980 |
Six2-Related Frontonasal Dysplasia |
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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 |
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Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Anisospondyly, Hypertelorism, Hi... |
ORPHA:2484 |
Trigonocephaly 2 |
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Depressed nasal bridge, Wide nasal bridge, Metopic synostosis, Hypertelorism |
OMIM:614485 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
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Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Wide... |
ORPHA:2774 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Enlarged joints, Hypertelorism, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum, ... |
ORPHA:166024 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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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 |
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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 |
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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 |
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Anteverted nares, Hypertelorism, Metaphyseal widening, Large fontanelles, Abnormal form of the ve... |
ORPHA:73230 |
Progeroid Syndrome, Petty Type |
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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 |
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Osteopenia, Sandal gap, Anteverted nares, Short toe, Clinodactyly of the 5th finger, Short nose, ... |
OMIM:617877 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
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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 |
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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 |
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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 |
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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 |
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Tapered finger, Hypertelorism, Long fingers, Flexion contracture, 2-3 toe syndactyly, Wide nasal ... |
OMIM:218000 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Hypophosphatasia, Infantile |
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Craniosynostosis, Bowing of the legs, Vertebral clefting, Increased susceptibility to fractures, ... |
OMIM:241500 |
Stuve-Wiedemann Syndrome 2 |
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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 |
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Bowing of the long bones, Broad long bones, Short neck, Metaphyseal widening, Limitation of joint... |
OMIM:224400 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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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 |
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Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Hypertelorism, Aplasi... |
ORPHA:364577 |
Baraitser-Winter Syndrome 1 |
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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 |
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Prominent nasal bridge, Limited elbow movement, Craniosynostosis, Hypertelorism, Hip dislocation,... |
OMIM:265050 |
Aymé-Gripp Syndrome |
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Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered fi... |
ORPHA:1272 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
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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 |
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Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
Coffin-Lowry Syndrome |
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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 |
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Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects... |
OMIM:259100 |
Wolf-Hirschhorn Syndrome |
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Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Hypertelorism, Preaxial han... |
ORPHA:280 |
Perlman Syndrome |
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Deeply set eye, Short nose, Anteverted nares, Wide nasal bridge |
ORPHA:2849 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Short nose, Sandal gap, Hypertelorism |
OMIM:300887 |
Weiss-Kruszka Syndrome |
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Prominent metopic ridge, Anteverted nares, Proximal placement of thumb, Clinodactyly of the 5th f... |
OMIM:618619 |
Robinow Syndrome |
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Fused thoracic vertebrae, Syndactyly, Small for gestational age, Anteverted nares, Kyphoscoliosis... |
ORPHA:97360 |
Intellectual Disability, Buenos-Aires Type |
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Hypertelorism, Wide nasal bridge, Reduced bone mineral density, Abnormal pelvic girdle bone morph... |
ORPHA:3079 |
Yunis-Varon Syndrome |
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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 |
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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 |
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Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Proptosis, Decreased ost... |
OMIM:259720 |
Meckel Syndrome, Type 8 |
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Depressed nasal ridge, Short nose, Polydactyly, Short neck |
OMIM:613885 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
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Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Geleophysic Dysplasia 1 |
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Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, S... |
OMIM:231050 |
Cdags Syndrome |
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Sagittal craniosynostosis, Kyphosis, Large fontanelles, Short clavicles, Lambdoidal craniosynosto... |
OMIM:603116 |
Myhre Syndrome |
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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 |
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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 |
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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 |
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Wormian bones, Anteverted nares, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal ... |
ORPHA:444077 |
Localized Scleroderma |
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Abnormality of the nose, Flexion contracture, Arthritis, Deeply set eye, Proptosis, Sclerosis of ... |
ORPHA:90289 |
Arterial Tortuosity Syndrome |
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Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... |
ORPHA:3342 |
Laron Syndrome |
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Abnormal joint morphology, Short long bone |
OMIM:262500 |
Branchioskeletogenital Syndrome |
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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 |
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Short nose, Joint hypermobility, Hypertelorism |
OMIM:300143 |
Dermotrichic Syndrome |
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Depressed nasal bridge, Abnormal vertebral morphology, Short nose |
ORPHA:99688 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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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 |
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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 |
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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, RodrÃguez 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 |
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Large for gestational age, Hemivertebrae, Depressed nasal ridge, Mesoaxial polydactyly, Radial bo... |
ORPHA:672 |
Frontofacionasal Dysplasia |
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Underdeveloped nasal alae, Hypertelorism, Bifid nose, Midline defect of the nose, Short nose, Hyp... |
OMIM:229400 |
Oculoectodermal Syndrome |
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Proptosis, Depressed nasal bridge, Wide nasal bridge, Short neck |
OMIM:600268 |
Cornelia De Lange Syndrome |
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Toe syndactyly, Anteverted nares, Abnormal morphology of ulna, Proximal placement of thumb, Joint... |
ORPHA:199 |
Machado-Joseph Disease Type 1 |
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Proptosis |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Proptosis |
ORPHA:276241 |
Menkes Disease |
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Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo... |
ORPHA:565 |
Immunodeficiency 49 |
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Wormian bones, Hypertelorism |
OMIM:617237 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Proportionate shortening of all digits, Anteverted nares, Tapered finger, Short neck, Hypertelori... |
ORPHA:280633 |
Axenfeld-Rieger Syndrome, Type 3 |
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Concave nasal ridge, Proptosis, Hypertelorism |
OMIM:602482 |
Johanson-Blizzard Syndrome |
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Abnormal nostril morphology, Short nose, Failure to thrive, Underdeveloped nasal alae |
ORPHA:2315 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Short nose |
OMIM:256600 |
Machado-Joseph Disease Type 3 |
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Proptosis |
ORPHA:276244 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Depressed nasal bridge, Craniosynostosis, Tapered finger, Small hand, Depressed nasal tip, Hip dy... |
OMIM:620005 |
Familial Infantile Myoclonic Epilepsy |
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Proptosis |
ORPHA:352582 |
Ellis-Van Creveld Syndrome |
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Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
Autosomal Dominant Cutis Laxa |
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Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Abnormal curvature of the vertebral c... |
ORPHA:90348 |
Renal And Mullerian Duct Hypoplasia |
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Short nose, Hypertelorism |
OMIM:266810 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Flexion contracture, Genu valgum, Deeply set eye, Abdominal obesity, Short nose, Convex nasal ridge |
OMIM:619321 |
Craniofacial-Deafness-Hand Syndrome |
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Short nose, Depressed nasal bridge, Narrow naris, Hypertelorism |
OMIM:122880 |
Trichothiodystrophy 1, Photosensitive |
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Short nose, Flexion contracture, Small for gestational age |
OMIM:601675 |
Dural Sinus Malformation |
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Proptosis |
ORPHA:97339 |
1P21.3 Microdeletion Syndrome |
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Broad nasal tip, Obesity, Deeply set eye, Short nose, Joint hypermobility |
ORPHA:293948 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Internally rotated shoulders, Prominent nose, Flexion co... |
OMIM:619503 |
Williams Syndrome |
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Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of... |
ORPHA:904 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Proptosis, Small for gestational age, Weight loss |
ORPHA:424 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Thoracic... |
ORPHA:505248 |
Waldenström Macroglobulinemia |
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Proptosis, Epistaxis |
ORPHA:33226 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Broad toe, Anteverted nares, Tapered finger, Long nose, Short thumb, Broad nasal tip, Bulbous nos... |
OMIM:619522 |
Genitourinary And/Or Brain Malformation Syndrome |
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Syndactyly, Aplasia of the nasal bone, Kyphoscoliosis, Joint stiffness, Hypertelorism, Short nose |
OMIM:618820 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Anteverted nares, Hypertelorism, Short neck, Wide nasal bridge, Short nose |
ORPHA:2282 |
Holoprosencephaly 7 |
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Flat nasal alae, Hypertelorism, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal... |
OMIM:610828 |
Williams-Beuren Syndrome |
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Hallux valgus, Osteopenia, Joint laxity, Failure to thrive in infancy, Down-sloping shoulders, Ky... |
OMIM:194050 |
Beckwith-Wiedemann Syndrome |
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Prominent metopic ridge, Proptosis, Large fontanelles |
OMIM:130650 |
Trichothiodystrophy 4, Nonphotosensitive |
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Short nose, Anteverted nares |
OMIM:234050 |
Hyperthyroidism, Nonautoimmune |
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Proptosis, Small for gestational age |
OMIM:609152 |
Zygomycosis |
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Nasal congestion, Epistaxis, Proptosis, Osteolysis |
ORPHA:73263 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Neonatal death, Short nose, Hypertelorism |
OMIM:252160 |
Familial Gestational Hyperthyroidism |
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Proptosis, Weight loss |
ORPHA:99819 |
Hypermobile Ehlers-Danlos Syndrome |
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Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
Meningioma |
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Back pain, Proptosis, Obesity, Abnormality of the sense of smell |
ORPHA:2495 |
Medulloblastoma |
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Back pain, Delayed cranial suture closure |
ORPHA:616 |
Granulomatosis With Polyangiitis |
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Proptosis, Abnormality of the nose, Epistaxis, Weight loss |
ORPHA:900 |
Peters Plus Syndrome |
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Sacral dimple, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short neck, Hyperteloris... |
ORPHA:709 |
Cadds |
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Short nose |
ORPHA:369942 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Joint laxity, Sandal gap, Short neck, Broad nasal tip, Long fingers, Wide nasal bridge, Cutaneous... |
OMIM:620330 |
Holoprosencephaly 2 |
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Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Hypotelorism, Proptosis, Sco... |
OMIM:157170 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Short nose, Hypertelorism |
OMIM:252150 |
Proboscis Lateralis |
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Choanal atresia, Proboscis, Hypertelorism, Single naris, Proptosis, Cyclopia |
ORPHA:141099 |
Vascular Ehlers-Danlos Syndrome |
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Joint dislocation, Narrow nasal bridge, Congenital hip dislocation, Hypertelorism, Osteoarthritis... |
ORPHA:286 |
Lipodystrophy, Familial Partial, Type 7 |
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Small for gestational age, Narrow nasal ridge, Large fontanelles, Short nose, Failure to thrive |
OMIM:606721 |
Peroxisome Biogenesis Disorder 4B |
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Short nose, Hypertelorism |
OMIM:614863 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglot... |
OMIM:617088 |
Cherubism |
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Proptosis |
OMIM:118400 |
Liver Disease, Severe Congenital |
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Joint laxity, Depressed nasal bridge, Narrow nasal ridge, Proptosis, Failure to thrive |
OMIM:619991 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:305100 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Proptosis, Weight loss |
ORPHA:79078 |
Juvenile Xanthogranuloma |
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Proptosis |
ORPHA:158000 |
Retinoblastoma |
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Proptosis |
ORPHA:790 |
Tropical Endomyocardial Fibrosis |
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Proptosis, Cachexia |
ORPHA:75565 |
Penile Agenesis |
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Short nose, Depressed nasal bridge |
ORPHA:49 |