Gene Summary

Name:
nucleic acid binding protein 2
Synonyms:
2610036N15Rik,  Obfc2b,  SSB1,  Nabp2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Nabp2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal craniofacial morphology Nabp2tm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal limb morphology Nabp2tm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal embryo size Nabp2tm1b(KOMP)Wtsi HOM E15.5 0.00
edema Nabp2tm1b(KOMP)Wtsi HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 100% (1 of 1)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (1 of 1)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 100% (1 of 1)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote Ambiguous
N/A Ambiguous
Urinary system N/A heterozygote 100% (1 of 1)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

Human diseases caused by Nabp2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Nabp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atelosteogenesis, Type I
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax... OMIM:108720
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... ORPHA:93323
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, De... ORPHA:1452
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi... ORPHA:90652
Fibrochondrogenesis 1
Thin ribs, Low-set ears, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l... OMIM:228520
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Sprengel an... ORPHA:958
Achondrogenesis, Type Ia
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... OMIM:200600
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Long philt... ORPHA:1988
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Low-set ears, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, 11 pair... OMIM:201170
Microcephaly-Micromelia Syndrome
Low-set ears, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine gro... OMIM:251230
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tarsal ossification... OMIM:269250
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Tarsal synostosis, Mesomelic arm s... ORPHA:2756
Platyspondylic Dysplasia, Torrance Type
Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow c... ORPHA:85166
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... OMIM:616897
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Carpal synostosis, Thick upper lip vermilion, Cutaneous ... OMIM:186500
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Aspiration pneumonia, Respiratory distress, Temporom... ORPHA:141152
Atelosteogenesis Type Ii
Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Micrognat... ORPHA:56304
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Conductive hearing impairment, Atresia of the external auditory... OMIM:602471
Cousin Syndrome
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... OMIM:260660
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna... OMIM:227270
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnorma... ORPHA:3268
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod... OMIM:300373
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Sensori... ORPHA:440354
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Sandal gap, Short thumb, Radial c... ORPHA:1972
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory... OMIM:277170
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer... OMIM:616716
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Hypoplastic iliac wing, Micro... OMIM:119600
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Heari... ORPHA:1856
Kyphomelic Dysplasia
Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant... OMIM:211350
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Cleft palate, Hypop... OMIM:602196
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met... OMIM:187600
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Omodysplasia 2
Wide nasal bridge, Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion... OMIM:164745
Achondroplasia
Radial bowing, Recurrent otitis media, Genu varum, Thoracic hypoplasia, Femoral bowing, Limited e... OMIM:100800
Osteogenesis Imperfecta, Type X
Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bone... OMIM:613848
Acrodysostosis
Hearing impairment, Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morpholo... ORPHA:950
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... OMIM:612447
Ulbright-Hodes Syndrome
Thin ribs, Low-set ears, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Ta... ORPHA:3404
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short foot, Abnormal... OMIM:269860
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... OMIM:210720
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hearing impairment, Hypoplastic iliac win... OMIM:609945
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... OMIM:187601
3M Syndrome
Thin ribs, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow, Horizontal ... ORPHA:2616
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Bowen-Conradi Syndrome
Abnormal lung lobation, Camptodactyly of finger, Joint stiffness, Micrognathia, Death in infancy,... ORPHA:1270
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of th... ORPHA:1307
Acrorenal-Mandibular Syndrome
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, ... OMIM:200980
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Stuve-Wiedemann Syndrome 1
Thin ribs, Low-set ears, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal raref... OMIM:601559
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Micrognathia, Bowing of th... ORPHA:628
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Macrotia, Cleft... OMIM:616300
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Pelviscapular Dysplasia
Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ... ORPHA:93333
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Sensorineural hearing impairmen... OMIM:271700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum... OMIM:276820
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... OMIM:164900
Van Bogaert-Hozay Syndrome
Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal pinna ... OMIM:277150
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Atelosteogenesis Type I
Low-set ears, Rhizomelia, Narrow chest, Joint dislocation, Thoracic hypoplasia, Absent or minimal... ORPHA:1190
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Congenital hip dislocation, Deviation of finger, Hearing abnormality, Malar fl... ORPHA:2412
Orofaciodigital Syndrome X
Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... OMIM:165590
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Recurrent aspiration pneumonia, Cl... OMIM:300484
Otoonychoperoneal Syndrome
Low-set ears, Ankle flexion contracture, Hip contracture, Knee flexion contracture, Posteriorly r... OMIM:259780
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly, Upper limb phocomelia, Sti... ORPHA:294975
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... ORPHA:2831
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, ... OMIM:309350
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Short tibia, Sanda... OMIM:607143
Osteoglophonic Dysplasia
Low-set ears, Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phal... OMIM:166250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint hypermobility,... OMIM:618395
Craniodiaphyseal Dysplasia
Wide nasal bridge, Craniofacial hyperostosis, Conductive hearing impairment, Stenosis of the exte... ORPHA:1513
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongu... OMIM:613091
Campomelic Dysplasia
Small abnormally formed scapulae, Low-set ears, Narrow chest, Tracheomalacia, Hearing impairment,... ORPHA:140
Seckel Syndrome 1
Ivory epiphyses, Low-set ears, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial ... OMIM:210600
Postaxial Acrofacial Dysostosis
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p... ORPHA:246
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Micrognathia, 2-5 finger syndactyly,... OMIM:308050
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia... ORPHA:2256
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin... ORPHA:93328
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flatt... OMIM:615162
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermili... ORPHA:357175
Microphthalmia With Limb Anomalies
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2-5 toe syndactyly... OMIM:206920
Lipedema
Edema OMIM:614103
Smith-Mccort Dysplasia 1
Hypoplastic facial bones, Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic a... OMIM:607326
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, T... ORPHA:2790
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Long philtrum, R... ORPHA:2878
Fibrochondrogenesis
Low-set ears, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camp... ORPHA:2021
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Micromelia, C... ORPHA:2635
ERI1-related disease
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Pes planus, Patellar dislocation, Finge... OMIM:608739
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi... OMIM:212780
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Abnormal hand morphology, Malar flattening, Short foot, Cleft palate OMIM:300261
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... ORPHA:2249
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility OMIM:276821
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Abnormal pinn... OMIM:617925
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Malar flattening, A... ORPHA:2145
Achondrogenesis Type 1B
Narrow chest, Micromelia, Abnormal enchondral ossification, Short thorax, Long philtrum, Microgna... ORPHA:93298
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Marshall-Smith Syndrome
Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin... OMIM:602535
Mietens-Weber Syndrome
Forearm undergrowth, Elbow flexion contracture, Pes planus, Dislocated radial head, Absent proxim... OMIM:249600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac w... OMIM:208500
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic... OMIM:151210
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Thick anterior alveol... ORPHA:2839
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F... ORPHA:1106
Cranioectodermal Dysplasia 1
Low-set ears, Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip v... OMIM:218330
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Low-set ears, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Respi... ORPHA:2759
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Short thorax, Joint stiffness, Micrognath... ORPHA:1801
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calci... OMIM:222765
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb under... ORPHA:1423
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal... ORPHA:2631
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Orofaciodigital Syndrome Iv
Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobul... OMIM:258860
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Meier-Gorlin Syndrome 1
Thin ribs, Low-set ears, Small hand, Joint contracture of the hand, Elbow dislocation, Hearing im... OMIM:224690
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Boomerang Dysplasia
Wide nasal bridge, Fibular aplasia, Neonatal death, Hypoplastic iliac body, Absent radius OMIM:112310
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... ORPHA:1788
Cerebrocostomandibular Syndrome
Low-set ears, Carious teeth, Micrognathia, Bell-shaped thorax, Cleft soft palate, Short hard pala... OMIM:117650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle h... OMIM:617895
Heart Defects-Limb Shortening Syndrome
Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormality of the pulmonary artery, Death in... ORPHA:1354
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Low-set ears, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnorma... ORPHA:93267
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Hearing impairment, Abnormal foot morpholo... ORPHA:94068
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc... OMIM:609052
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short... OMIM:268305
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ... OMIM:146510
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Malar flattening, Fibular hypop... ORPHA:3144
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Odontochondrodysplasia
Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Micromelia, D... ORPHA:166272
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Joint ... ORPHA:2557
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Micrognathia, Tibial bowi... ORPHA:3035
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Low-set ears, Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Ne... OMIM:618393
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li... OMIM:252500
Achondrogenesis Type 1A
Narrow chest, Micromelia, Abnormal enchondral ossification, Long philtrum, Micrognathia, Multiple... ORPHA:93299
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Tali... OMIM:134780
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... ORPHA:363417
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Ivic Syndrome
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... OMIM:147750
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotat... ORPHA:1388
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Low-set e... OMIM:617102
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Delayed cranial suture closure, Respiratory distress, Intrauterine gr... ORPHA:1832
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Postaxial Acrofacial Dysostosis
Low-set ears, Congenital hip dislocation, Pyloric stenosis, Conical tooth, Cupped ear, Short thum... OMIM:263750
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Low-set, posterio... ORPHA:1703
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Craniofacial hyperostosis, Craniofacial osteosclerosis, Hearing impairment, Co... OMIM:122860
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Intrauterine growth retarda... ORPHA:52
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Low-set ears, Retrognathia, Oligodactyly, Recurrent otitis media, Median pseudocleft lip, Glue ea... OMIM:619758
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ... ORPHA:2804
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Abnormal earlobe ... ORPHA:95699
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,... OMIM:608154
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... ORPHA:174
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... OMIM:258315
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty... OMIM:258865
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Micromelia, Hearing impairment, Absent vertebral body mineralizat... ORPHA:93296
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Retrognathia, Atelectasis, Respiratory distress, Death in infancy, Joint hypermobility... OMIM:300219
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili... OMIM:620076
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Broad foot, Talipes, Pes planus, Everted lower lip vermilion, Shor... ORPHA:915
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Talipes... ORPHA:536467
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Micrognathia, Genu valgum, Narrow mouth, Radial head subluxation, Patellar di... OMIM:614078
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Death in early adulthood, Sensorineural hearing impairment, Oro... ORPHA:79107
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Crumpled ear, Clinodactyly, Hearing impairment, Pes planus, Everted lower lip vermilion, High pal... OMIM:620494
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... OMIM:156510
Catel-Manzke Syndrome
Low-set ears, Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow mouth, Talipes... OMIM:616145
Melnick-Needles Syndrome
Craniofacial hyperostosis, Tooth malposition, Hearing impairment, Delayed cranial suture closure,... ORPHA:2484
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Low-set ears, Retrognathia, Finger clinodactyly, Abnormal number of incisors, Supernumerary ribs,... ORPHA:2958
Fanconi Anemia, Complementation Group O
Chromosome breakage, Absent thumb, Short thumb, Death in infancy, Neonatal death, Hypoplasia of t... OMIM:613390
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P... OMIM:619135
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Hearing impairment, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flatte... OMIM:618363
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Hearing impairment, Short finger, Irre... OMIM:222600
Hypophosphatasia
Abnormality of the dentition, Narrow chest, Emphysema, Bowing of the long bones, Abnormal rib mor... ORPHA:436
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So... OMIM:602418
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Narrow chest, Micromelia, Hearing impairment, Joint stiffness, Femoral bowing, ... ORPHA:1860
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Hearing impairm... ORPHA:896
Arthrogryposis, Distal, Type 7
Cutaneous syndactyly of toes, Micrognathia, Talipes equinovarus, Distal arthrogryposis, Deep phil... OMIM:158300
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Hearing impairment, Genu valgum, Bilateral single transverse palmar creases, B... OMIM:143095
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Downturned corners of mouth, Intrauterine growth retardation, Enam... ORPHA:2643
Orofaciodigital Syndrome Type 2
Natal tooth, Short tibia, Finger syndactyly, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Hyperparathyroidism, Transient Neonatal
Thin ribs, Wide nasal bridge, Fractured rib, Osteopenia, Low-set ears, Metaphyseal spurs, Narrow ... OMIM:618188
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Clinodactyly, Widely spaced teeth, Respiratory distress, Micrognathia, Wide mo... OMIM:300934
Distal Duplication 5Q
Low-set ears, Carious teeth, Absent thumb, Long philtrum, Macrotia, Micrognathia, Narrow mouth, H... ORPHA:96097
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Hearing impairment, Fibular bowing, Rickets, Bulg... OMIM:277440
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Hearing impairment, ... OMIM:614669
Bartsocas-Papas Syndrome 1
Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Ab... OMIM:263650
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Intrauterine growth retardation, Neonatal death, Bowin... OMIM:619751
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... OMIM:249710
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Diaphanospondylodysostosis
Low-set ears, Tracheomalacia, Delayed vertebral ossification, Thoracic hypoplasia, Respiratory di... OMIM:608022
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Pectus carinatum, Broad thumb, Clinodactyly, Hyperplasia of the maxilla, Long hallux,... OMIM:620194
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... OMIM:156550
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Anteriorly placed anus, Intrauterine growth retardation, Abnormality... ORPHA:2319
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndacty... ORPHA:3082
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Cupped ear, Anteriorly placed anus, Intrauterine growth retardation, Micrognat... ORPHA:1352
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bowing, Sandal... OMIM:108721
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge... ORPHA:93322
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... OMIM:618022
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Low-set ears, Carpal synostosis, Micrognathia, Narrow mouth, Patella... OMIM:218600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:600081
Kinsship Syndrome
Low-set ears, Ankyloglossia, Micrognathia, Pes planus, Dislocated radial head, Hip dislocation, O... OMIM:619297
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Intrauterine growt... ORPHA:2167
Autosomal Recessive Omodysplasia
Low-set ears, Rhizomelia, Micromelia, Elbow dislocation, Long philtrum, Abnormal morphology of th... ORPHA:93329
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of... OMIM:619110
Bardet-Biedl Syndrome 16
Bronchiolitis, Hearing impairment, Respiratory distress, Recurrent otitis media, Polydactyly, Rec... OMIM:615993
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Cleft upper lip, Sensorineural hearing impairment, Femoral retroversion, Cl... OMIM:607371
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ... OMIM:614900
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacar... OMIM:166300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Low-set ears, Abnormality of the dentition, Downturned c... OMIM:615398
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1350
Radio-Renal Syndrome
High, narrow palate, Chylothorax, Micromelia, Retrognathia, Downturned corners of mouth, Respirat... ORPHA:3015
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Microglossia, Postaxial polysyndactyly ... OMIM:263520
Diaphanospondylodysostosis
Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib... ORPHA:66637
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, ... OMIM:212720
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Dental crowding, Retrognathia, Stillbirth, Internally rotated shoulder... OMIM:617468
Multiple Epiphyseal Dysplasia Type 4
Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnorm... ORPHA:93307
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Anterior ... OMIM:271665
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay... OMIM:264700
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Intrauterine growth retar... ORPHA:521308
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition... OMIM:157900
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Low-set, posteriorly rotated ears, Abnormal hip ... ORPHA:1486
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Thoracic h... OMIM:256050
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Mal... OMIM:614524
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Low-set ears, Micrognathia, Hip contracture, Talipes, High palate, Short nose, Tapered... OMIM:620369
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Fibrous Dysplasia Of Bone
Hearing impairment, Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, B... ORPHA:249
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture... OMIM:616531
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... OMIM:271650
Shox-Related Short Stature
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal ... OMIM:602271
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hearing impairment, Increased bone mineral density, Short humerus, Lateral femoral bo... OMIM:239000
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... ORPHA:1277
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Neonatal death, Hand polydactyly, Tracheoesophageal fistula, Esophageal atresia, A... OMIM:314390
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Duane-Radial Ray Syndrome
Sensorineural hearing impairment, Aplasia of metacarpal bones, Pes planus, Slit-like opening of t... OMIM:607323
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Low-set ears, Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, ... OMIM:601357
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calca... ORPHA:163966
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Aicardi Syndrome
Small hand, Block vertebrae, Cleft upper lip, Intestinal polyposis, Prominence of the premaxilla,... ORPHA:50
3Mc Syndrome 2
Wide nasal bridge, Caudal appendage, Hearing impairment, Downturned corners of mouth, Cleft upper... OMIM:265050
Tarp Syndrome
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ... OMIM:311900
Meier-Gorlin Syndrome 4
Genu recurvatum, Low-set ears, Hypoplasia of the maxilla, Slender long bone, Lateral clavicle hoo... OMIM:613804
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... ORPHA:3104
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Talipes... ORPHA:1865
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanelle, Long philtr... OMIM:304150
Kagami-Ogata Syndrome
Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Bell-shaped thor... OMIM:608149
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Crumpled ear, D... OMIM:600373
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Equinovarus deformity, Respiratory distress, Elbow flexion contracture... ORPHA:1143
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Low-set ears, Joint dislocation, Cleft upper lip, Short finger, Intrauterine growth re... OMIM:312150
Renpenning Syndrome
High, narrow palate, Macrodontia, Joint stiffness, Narrow mouth, Malar flattening, Abnormal thumb... ORPHA:3242
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Sh... ORPHA:439822
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology,... ORPHA:1540
Frontonasal Dysplasia 1
Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Joint contracture of the hand, Conduc... OMIM:136760
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Wide nasal bridge, Low-set ears, Narrow chest, Thoracic hypoplasia, Long philtrum, Widely spaced ... OMIM:619479
Meier-Gorlin Syndrome 3
Low-set ears, Micrognathia, Narrow mouth, Patellar aplasia, Aplasia/Hypoplasia of the patella, Ta... OMIM:613803
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Recon Progeroid Syndrome
Dental crowding, Long thumb, Prominence of the premaxilla, Arachnodactyly, Joint hypermobility, A... OMIM:620370
Steinfeld Syndrome
Bifid uvula, Hearing impairment, Median cleft palate, Missing ribs, Aplasia/Hypoplasia of the thu... OMIM:184705
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, He... ORPHA:245
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular... OMIM:177170
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Hearing impairment, ... OMIM:183600
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Intrauterine growth retardation, Micrognathia, Talipes equinovarus, Rocker bottom f... OMIM:616570
Immunodeficiency 43
Radial bowing, Organizing pneumonia, Lung abscess, Hypoplasia of the ulna, Recurrent respiratory ... OMIM:241600
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic... ORPHA:763
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis m... OMIM:300455
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis ORPHA:2776
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Micrognathia, Death in infa... OMIM:241800
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Gordon Syndrome
Finger syndactyly, Hearing impairment, Camptodactyly of finger, Clinodactyly of the 5th finger, S... ORPHA:376
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:241530
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath... OMIM:210710
Perching Syndrome
Respiratory distress, High palate, Camptodactyly, Joint contracture OMIM:617055
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... ORPHA:776
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Pectus carinatum, Hypoplasia of the maxilla, Broad thumb, Long philtrum, Narro... ORPHA:261295
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat... OMIM:246560
Otopalatodigital Syndrome, Type Ii
Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers... OMIM:304120
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct... ORPHA:2876
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Broad clavicles, Recurrent upper respiratory tract infections, Delayed eruption of teeth, Hearing... ORPHA:508542
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Dis... OMIM:300863
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Protruding ear, Talipes equinov... ORPHA:85279
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Broad foot, Anterior rib cupping, Fl... OMIM:300232
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Low-set ears, Metaphyseal cupping, Narrow chest, Micromelia, Wid... OMIM:613320
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sanda... ORPHA:90650
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Ge... OMIM:253000
Craniometadiaphyseal Dysplasia
Low-set ears, Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis... OMIM:269300
Tetrasomy 9P
Small hand, Hypoplastic scapulae, Abnormal earlobe morphology, Micrognathia, Glue ear, Bilateral ... ORPHA:3310
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Pe... OMIM:251450
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... ORPHA:93308
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia... ORPHA:1248
Antley-Bixler Syndrome
Narrow chest, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Delayed c... ORPHA:83
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Talipes equinovarus, Large hands, High palate, Short foot, Macrotia, Talipes calcan... OMIM:300534
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Elbow dislocation, Hearing impairment, Atresia of the... ORPHA:2554
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
N Syndrome
Leukemia, Abnormality of chromosome stability OMIM:310465
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit... OMIM:619466
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Broad long bones, Abnormal foot morphology, Hypoplastic iliac w... OMIM:200610
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Van Maldergem Syndrome 1
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... OMIM:601390
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyse... OMIM:250420
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Microretrognathia, Conductive hearing impairment, Hearing impairment, Nar... OMIM:616229
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased... OMIM:259440
Greenberg Dysplasia
Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Decreased ... ORPHA:1426
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Intrauterine growth retarda... ORPHA:93324
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, Intrauterine growth retardation, 11 pairs of ribs, Patellar aplasia, Radioul... OMIM:617604
Farber Disease
Recurrent upper respiratory tract infections, Short toe, Atelectasis, Abnormal foot morphology, R... ORPHA:333
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Cervical ribs... OMIM:617927
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... ORPHA:85184
Acromegaloid Facial Appearance Syndrome
Short 5th metacarpal, Micrognathia, Joint hypermobility, Deep philtrum, Large hands, Thick vermil... OMIM:102150
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Intrauterine gr... OMIM:617022
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,... ORPHA:2886
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b... ORPHA:89936
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, Absent tragus, Conductive ... ORPHA:79113
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, ... OMIM:224300
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of the... ORPHA:1529
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Low-set ears, Joint dislocation, Short finger, Intrauterine growth retardation, Microg... OMIM:253290
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinova... OMIM:611209
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Hypoplasia of the maxilla, Abnormality of the costochondral junct... ORPHA:79345
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Fractures of the long bones, Sclerosis of skull base, Fe... OMIM:602080
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:254361
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Pulmonary artery aneurysm, Pulmonary artery dilatation, Retrognathia, Emphysema, Mi... OMIM:614437
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal... OMIM:170390
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bo... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Posterior rib cupping, Metaphyseal spurs, Irregular epiphyses, Thoracic hypoplasia, S... OMIM:608728
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Aicardi Syndrome