Gene Summary

Name:
periostin, osteoblast specific factor
Synonyms:
Osf2,  peri,  OSF-2,  Periostin,  A630052E07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytosis Postntm1.1(KOMP)Vlcg HOM Early adult 3.77×10-07
increased circulating alkaline phosphatase level Postntm1.1(KOMP)Vlcg HOM Early adult 9.32×10-10
increased bone mineral content Postntm1.1(KOMP)Vlcg HOM Early adult 4.55×10-06
decreased thigmotaxis Postntm1.1(KOMP)Vlcg HOM Early adult 8.38×10-06
decreased bone mineral density Postntm1.1(KOMP)Vlcg HOM Early adult 1.65×10-06
abnormal bone structure Postntm1.1(KOMP)Vlcg HOM Early adult 1.93×10-08
decreased body length Postntm1.1(KOMP)Vlcg HOM Early adult 6.28×10-21
increased grip strength Postntm1.1(KOMP)Vlcg HOM Early adult 5.52×10-17
impaired righting response Postntm1.1(KOMP)Vlcg HOM Early adult 3.22×10-06
decreased bone mineral content Postntm1.1(KOMP)Vlcg HOM Early adult 1.41×10-05
abnormal sleep behavior Postntm1.1(KOMP)Vlcg HOM   Early adult 7.38×10-10

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lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 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%
brown adipose tissue 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%
midbrain 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%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process 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%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Sleep Wake

Wake state (bmp file)

11 Images

X-ray

XRay Images Forepaw

8 Images

Adult LacZ

LacZ Images Section

25 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Postn 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 Postn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Steatocystoma Multiplex
Natal tooth OMIM:184500
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth OMIM:619787
Junctional Epidermolysis Bullosa Inversa
Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia OMIM:601453
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan... OMIM:618363
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... OMIM:210720
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Growth delay, Postnatal growth retardation, Intrauterine gr... ORPHA:93324
3M Syndrome
Thin ribs, Decreased fertility, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abn... ORPHA:2616
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... ORPHA:1452
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Carious teeth, Enamel hypoplasia OMIM:226700
Three M Syndrome 2
Short 5th finger, Thin ribs, Pectus carinatum, Severe short stature, Dental malocclusion, Delayed... OMIM:612921
Acrodysostosis
Open bite, Abnormal female external genitalia morphology, Open mouth, Cryptorchidism, Bowing of t... ORPHA:950
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Delayed ossification... OMIM:602471
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Odontochondrodysplasia
Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Delayed erupt... ORPHA:166272
Osteogenesis Imperfecta, Type Xix
Severe short stature, Dentinogenesis imperfecta, Rhizomelia, Pectus carinatum, Osteopenia, Bowing... OMIM:301014
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Pectus carinatum, Disproportionate short-limb short stature, Bowing of... OMIM:259440
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Microce... ORPHA:3268
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Bowing of the long bones, Osteopenia, Thora... OMIM:613848
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Severe short stature, Hip dislocation, Carious teeth, Generalized hypoplasia of dental enamel, Cu... OMIM:203550
48,Xyyy Syndrome
Male hypogonadism, Long philtrum, Thick lower lip vermilion, Dislocated radial head, Abnormal foo... ORPHA:99329
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Intrauterine growth retardation, Decreas... OMIM:244460
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Bilateral talipes equinovarus, Advanced ossification ... OMIM:269250
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Pectus carinatum, Hypermobility of interphal... OMIM:613849
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Mandibular osteomyelitis, Thickened cortex of long bones, Recurrent fractures ORPHA:53697
Omodysplasia 2
Limited elbow flexion, Recurrent otitis media, Micrognathia, Cryptorchidism, Dislocated radial he... OMIM:164745
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Seckel Syndrome 4
Severe short stature, Retrognathia, 11 pairs of ribs, Steep acetabular roof, Intrauterine growth ... OMIM:613676
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Cryptorchidism, Fibula... OMIM:612447
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Fibrochondrogenesis 1
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Nar... OMIM:228520
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-l... OMIM:259420
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Postnatal growth retardation, Micrognathia, Cryptorchidism... OMIM:210600
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal epiphysis morphology, Downturned corners of mouth, Intrauterine gr... ORPHA:2643
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ... ORPHA:958
Seckel Syndrome 5
Clitoral hypertrophy, Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Cry... OMIM:613823
Three M Syndrome 1
Postnatal growth retardation, Pes planus, Hypospadias, Mandibular prognathia, Hip dislocation, Sh... OMIM:273750
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Talipes, ... ORPHA:10
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Hall-Riggs Syndrome
Failure to thrive, Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia of the ... OMIM:234250
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Chordee,... OMIM:166250
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Cranial hyp... ORPHA:3416
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel... ORPHA:440354
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, G... ORPHA:89936
Smith-Mccort Dysplasia 1
Hypoplastic facial bones, Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic a... OMIM:607326
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Cranioectodermal Dysplasia
Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Narrow chest, Finger sy... ORPHA:1515
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Postnatal... OMIM:272440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Secondary hyperparathyroidism, Rickets, Bulging ... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Secondary hyperparathyroidism, Ri... OMIM:277440
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Radial deviation of the hand, Retrognathia, Short thumb, Microgna... OMIM:227270
Cole-Carpenter Syndrome 2
Thin ribs, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteopenia,... OMIM:616294
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Pulmonic stenosi... OMIM:212780
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Clitoral hypertrophy, Elbow dislocation, Cu... OMIM:224690
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Hypoplastic left heart, Microretrognathia, Microglossia, Sandal gap, Short tibi... ORPHA:1972
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Slender long bone, Decreased circulating osteocalcin level, Intrauteri... OMIM:619795
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... ORPHA:168549
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
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar sy... ORPHA:1988
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Severe limb shortening, Abnormal femoral metap... OMIM:200600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Ventricular septal defect... OMIM:616897
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow chest, Micromel... ORPHA:85166
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Cryptorchidism, Tal... OMIM:225500
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Pectus carinatum, Long philtrum, Umbilical hernia, Wide distal femoral... OMIM:614856
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Anterior rib cupping, Flattened epiphy... OMIM:300232
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Obesity, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, S... OMIM:612463
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Chondrodysplasia, Blomstrand Type
Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia, Malar fl... OMIM:215045
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Anterior radial he... OMIM:610967
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Cryptorchidi... OMIM:108720
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Micromelia, Absent vertebral body mineralization, Delayed pubic b... ORPHA:93296
Osteogenesis Imperfecta, Type Viii
Thin ribs, Dentinogenesis imperfecta, Osteopenia, Disproportionate short-limb short stature, Radi... OMIM:610915
Acromesomelic Dysplasia 2A
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Stillbirth, Aplasia/Hypopl... OMIM:200700
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Joint sti... ORPHA:1801
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Retrognathia, Slender long bone, Micrognathia, Decreased body weight, Decreased calvar... OMIM:618265
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Taurodontism
Taurodontia OMIM:272700
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn... ORPHA:251393
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Atrial septal defect, Hypospadias, Pierre-Robin sequence, Bicoronal... OMIM:619184
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplas... ORPHA:163966
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Short toe, Delayed eruption of teeth, Short finge... OMIM:103580
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Mal... OMIM:614524
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop... OMIM:151210
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Micromelia, Long philtrum, Thoracic hypoplasia, Lateral clavicle ... OMIM:617895
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal morpho... ORPHA:2141
Pallister-Hall-Like Syndrome
Microglossia, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Anterior hypopituitarism, M... OMIM:241800
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Cleft palate, Hypop... OMIM:602196
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening... OMIM:300863
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Ventricular septal defect, Short f... OMIM:269860
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Mic... OMIM:260660
Garg-Mishra Progeroid Syndrome
Thin ribs, Narrow chest, Dental crowding, Slender long bone, Slender metacarpals, Postnatal growt... OMIM:620601
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Recurrent otitis media, Micrognathia, Genu valgum, Mitra... OMIM:309350
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:226670
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Disproportionate s... ORPHA:1856
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Clark-Baraitser syndrome
Genu recurvatum, Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Genu valgu... OMIM:300602
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Bifid scrotum, Micrognathia, ... ORPHA:93328
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor... OMIM:613320
Prieto Syndrome
Abnormality of the dentition, Clinodactyly, Retrognathia, Radial deviation of finger, 11 pairs of... OMIM:309610
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Limitation of joint mobilit... ORPHA:95699
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Mitral valve... OMIM:182212
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
48,Xxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96263
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Growth delay, Contractures of the large joints, Short femoral neck, Pes cavu... OMIM:616716
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Postnatal growth ret... OMIM:619135
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Neonatal short-limb short stature, Micromelia, Umbilical hernia, ... OMIM:600972
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth OMIM:190320
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis... OMIM:271700
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi... OMIM:600920
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos... ORPHA:2790
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Delayed eruption of teeth, Elevated circulating t... OMIM:612462
Distal Duplication 5Q
Carious teeth, Absent thumb, Eczematoid dermatitis, Long philtrum, Micrognathia, Narrow mouth, Cr... ORPHA:96097
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Campomelic Dysplasia
Micrognathia, Bowing of the long bones, Talipes equinovarus, Male pseudohermaphroditism, Hypoplas... ORPHA:140
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Growth delay, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Br... ORPHA:52056
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, V... ORPHA:2256
Premature Ovarian Failure 2B
Abnormality of the dentition, Female infertility, Delayed puberty, Primary amenorrhea, Osteoporos... OMIM:300604
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Recurrent pneumonia, Short tibia, Sandal gap, Failure to thrive, Crypt... OMIM:607143
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Epiphyseal stippling, S... OMIM:600121
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Osteomalacia, Postnatal growth retardation, Secondary hyperparat... ORPHA:289157
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Micrognathia, Genu valg... ORPHA:56304
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Cryptorchidism, Flat acetabular roof, Cleft lip, Ha... OMIM:616300
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Congenital dia... OMIM:200980
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Delayed eruption of p... ORPHA:763
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Disproportionate short-limb sho... OMIM:187600
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96264
Fetal Akinesia Deformation Sequence 4
Retrognathia, 11 pairs of ribs, Micrognathia, Cryptorchidism, Neonatal death, Camptodactyly, High... OMIM:618393
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom... OMIM:613684
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Tho... OMIM:166210
Premature Aging Syndrome, Penttinen Type
Thin ribs, Micrognathia, Flexion contracture of finger, Short foot, Hypoplasia of the maxilla, Ke... OMIM:601812
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Atrial septal defect, Osteop... OMIM:620076
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Retrognathia, Bifid scrotum, Glandular hypospadias, Cryptorchidism, Penile hypospadias... ORPHA:456328
Achondrogenesis, Type Ii
Microretrognathia, Disproportionate short-limb short stature, Long philtrum, Broad long bones, Ab... OMIM:200610
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Disproportionate short stature, F... OMIM:222765
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Intrauterine growth retardation, Single trans... OMIM:253250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Short femoral neck, Knee dislocation, Obesity, Joint hypermobility, Carpal bone hypopl... OMIM:618395
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... OMIM:187601
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, ... ORPHA:3144
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Uterus didelphys, Abnormality of the wrist, Short humerus, Microcephaly, Hypothyroidi... ORPHA:2491
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Failure to thrive, Secondary microcephaly, Malar flattening, Joint hypermob... OMIM:614727
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Disproportionate short-limb short stature, ... ORPHA:1803
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Lower limb undergrowth... OMIM:186500
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Talipe... OMIM:601559
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Ventricular septal defect, Atria... OMIM:600373
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... ORPHA:2831
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Broad foot, T... OMIM:609441
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Thoracic dysplasia, Obesity, Genu valgum, Bell-shaped thorax, Short ribs, Ve... OMIM:615630
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Single transverse palmar crease, Microcephaly, Adducted thumb... OMIM:620062
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Ankyloglossia, Malar flattening, Mitral valve prolapse, Bilateral cleft palate... OMIM:618874
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Disproportionate shor... ORPHA:2501
Meier-Gorlin Syndrome 3
Small scrotum, Clitoral hypertrophy, Micrognathia, Narrow mouth, Patellar aplasia, Cryptorchidism... OMIM:613803
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Van Bogaert-Hozay Syndrome
Tooth malposition, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hy... OMIM:277150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... OMIM:170390
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, Narrow mo... OMIM:201170
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Cryptorchidism, Talip... ORPHA:1865
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Narrow mouth, Arachnodactyly, Abnormal bone ossification, High palate, Osteopenia, Thi... ORPHA:2463
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Cleft upper lip, Short finger, Hypoplastic heart, Intrauterine growth retardation, Mic... OMIM:312150
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Decreased body weight, Thin upper li... ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 35
Downturned corners of mouth, Long philtrum, Clinodactyly, Micrognathia, Malar flattening, Decreas... OMIM:615162
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Abnormality of the dentition, Umbilical hernia, Micrognathia, Femoral bowing, Joint hy... OMIM:617952
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Micropenis, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongue,... OMIM:613091
Kagami-Ogata Syndrome
Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Bell-shaped thor... OMIM:608149
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia, Abnormality of the dentition OMIM:615269
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Joint contracture of the hand, Narrow chest, Neonatal short-limb short stat... OMIM:224400
Cohen Syndrome
Micrognathia, Open mouth, Genu valgum, Mitral valve prolapse, Narrow palm, Pes planus, Short meta... OMIM:216550
Nestor-Guillermo Progeria Syndrome
Thin ribs, Micrognathia, Limited elbow movement, Right atrial enlargement, Left atrial enlargemen... OMIM:614008
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Absent gallbladder, Neonatal death, Cleft lip, Hamartoma ... OMIM:617925
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Rothmund-Thomson Syndrome
Carious teeth, Aplasia/Hypoplasia of the patella, Osteopenia, Aplasia/Hypoplasia of the radius, M... ORPHA:2909
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, S... OMIM:619598
Hallermann-Streiff Syndrome
Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Everted lower lip vermilion, ... OMIM:234100
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, T... OMIM:308050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Syndactyly, Brachydactyly, Osteol... ORPHA:88630
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Achondroplasia
Radial bowing, Recurrent otitis media, Genu varum, Thoracic hypoplasia, Femoral bowing, Limited e... OMIM:100800
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Mitral valve prol... ORPHA:666
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Hypophosphatasia, Infantile
Abnormality of the dentition, Metaphyseal cupping, Rachitic rosary, Unossified vertebral bodies, ... OMIM:241500
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Ventricular sept... OMIM:181450
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Failure to thrive, Ankylosis, Recurrent fractures, Short humerus, Lateral femoral bow... OMIM:239000
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li... OMIM:252500
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus, Osteopenia, Periodontiti... OMIM:619269
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Failure to thrive, Ankyloglossia, Decreased skul... OMIM:602361
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Metaphyseal dysplasia, B... OMIM:250420
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Ventricular septal defect, Aortic valve prolapse, Talipes equinovarus, ... OMIM:619980
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Broad distal phalanx of finger, Narrow chest, Recurrent pneumonia... OMIM:614378
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
Oculoskeletodental Syndrome
Short 5th finger, Abnormality of the dentition, Retrognathia, Clinodactyly, Hypoplasia of the cap... ORPHA:557003
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Pectus carinatum, Carious teeth, Abnormal epiphysis morphology, Abn... ORPHA:582
Cerebrocostomandibular Syndrome
Carious teeth, Postnatal growth retardation, Cleft soft palate, Micrognathia, Bell-shaped thorax,... OMIM:117650
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardatio... OMIM:251230
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Retrognathia, Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile h... OMIM:300219
Ramon Syndrome
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth ORPHA:3019
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Short finger, Hypoplastic heart, Intrauterine growth retardation, Micrognathia, Increa... OMIM:253290
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol... ORPHA:2839
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Obesity, Cubitus ... ORPHA:247768
Mietens-Weber Syndrome
Elbow flexion contracture, Severe postnatal growth retardation, Pes planus, Dislocated radial hea... OMIM:249600
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Lenz-Majewski Hyperostotic Dwarfism
Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Chordee, Diap... OMIM:151050
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Short tibia, Polydactyly, Median cleft upper lip, Short stature, ... OMIM:300484
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Disproportionate short-limb short stature, M... OMIM:602557
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Tarsal synost... OMIM:147891
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Broad thumb, Insulin-resistant diabetes mellitus, Overlapping toe, Micrognathia, Genu valgum, Cry... ORPHA:293967
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal undertubulation, Macrocephaly, Sho... ORPHA:1513
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Long philtrum, Ectrodactyly, Radial club hand, Abnormal dental morphology, Abnormality of the wri... ORPHA:2878
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... OMIM:143095
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth, Shagreen patch ORPHA:1816
Heyn-Sproul-Jackson Syndrome
Severe short stature, 11 pairs of ribs, Intrauterine growth retardation, Decreased body weight, M... OMIM:618724
Cranioectodermal Dysplasia 1
Clinodactyly, Anodontia, Bicuspid aortic valve, Broad distal phalanges of all fingers, Everted lo... OMIM:218330
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ... ORPHA:2804
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Genu valgum, Cryptorchidism, Ventricular septal defect, Atrial septal... ORPHA:289
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Hypospadias, Recurrent pneumonia, Dental malocclusion, Widely spa... OMIM:619293
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... ORPHA:50945
Ulnar-Mammary Syndrome
Decreased fertility, Cryptorchidism, Ventricular septal defect, Abnormal metacarpal morphology, S... ORPHA:3138
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... ORPHA:432
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Macrocephaly, Mesomelic/rhiz... ORPHA:2347
Ulbright-Hodes Syndrome
Thin ribs, Clitoral hypertrophy, Postnatal growth retardation, Fibular aplasia, Micrognathia, Nar... ORPHA:3404
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Cleft soft palate, Microgn... OMIM:142900
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Abnormal foot morphology... OMIM:263750
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Orofacial cleft, Femoral retroversion, Short stature, Macroglossia ORPHA:79107
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Situs inversus totalis, Narrow mouth, Decreased body weight, Microcephaly, Short statu... OMIM:614833
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Short toe, Long philtrum, Sandal gap, Short 5th metacarpal, 11 pairs... OMIM:617877
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,... OMIM:617866
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia OMIM:270200
Hyperparathyroidism, Transient Neonatal
Thin ribs, Hyperparathyroidism, Fractured rib, Narrow chest, Osteopenia, Metaphyseal spurs, Umbil... OMIM:618188
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Cleft upper lip, Femoral retroversion, Small for gestational age, Cleft palate OMIM:607371
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Glue ear, Bil... ORPHA:3310
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... OMIM:618022
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Azoospermia, Micrognathia, Sprengel anomaly, Abnormal rib morphology, Short stat... OMIM:601076
Hamamy Syndrome
Micrognathia, Cryptorchidism, Everted lower lip vermilion, Atrial septal defect, Hypoparathyroidi... OMIM:611174
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal cl... ORPHA:93267
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Cryptorchidism, Broad foot, Pes planus, Broad phalanx... ORPHA:439822
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Failure to thrive, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia,... OMIM:615503
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... OMIM:271665
Orofaciodigital Syndrome Iv
Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, Short finger, M... OMIM:258860
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1350
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Micrognathia, Narrow mouth, Decreased body weight, Slender finger, Downturned corne... ORPHA:391408
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Joint hyperm... OMIM:613982
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Postnatal growth retardation, Micrognathia, Narrow mouth, Genu... OMIM:616145
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Tooth malposition, Metaphyseal cupping, Osteopenia, Pathologic fracture, Mi... OMIM:156400
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Pseudohypoparathyroidism Type 1C
Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metacarpal, ... ORPHA:79444
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Abnormal rib morphology, Abnormal morphology of female internal genitalia, ... ORPHA:1797
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Cryptorchidism, Bowing of the lo... ORPHA:628
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... OMIM:604416
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Plantar pi... OMIM:109400
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin, Congenital hip dislocation, Mitral valve pr... OMIM:229200
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Lower limb undergrowth, Microcephaly, Orofacial cleft, Craniosynostosis, Forearm undergrowth OMIM:218650
Scarf Syndrome
Pectus carinatum, Long philtrum, Umbilical hernia, Bifid scrotum, Inguinal hernia, Cryptorchidism... ORPHA:3134
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Abnormality of the dentition, Osteopenia, Restrictive cardiomyopathy... OMIM:615398
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Poland Syndrome