Gene Summary

Name:
solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1
Synonyms:
UGTREL7

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
abnormal facial morphology Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
protruding tongue Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal coat appearance Slc35d1tm2b(EUCOMM)Hmgu HET Early adult 4.64×10-05
cleft palate Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal tail morphology Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
edema Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal limb morphology Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal head shape Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal embryo size Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal body wall morphology Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
preweaning lethality, complete penetrance Slc35d1tm2b(EUCOMM)Hmgu HOM   Early adult 0.00

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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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote Ambiguous
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 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)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus 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
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote Ambiguous
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Outflow tract N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 2)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
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)
atrium 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
mesonephros of female 1.85% (1 of 54)
mesonephros of male 1.85% (1 of 54)
metanephros 1.85% (1 of 54)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pancreas 1.85% (1 of 54)
pericardium 1.85% (1 of 54)
pharynx 1.82% (1 of 55)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
tongue 1.85% (1 of 54)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
urinary system 1.72% (1 of 58)
vibrissa 1.37% (1 of 73)

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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Slc35d1 mutations

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

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

The table below shows human diseases associated to Slc35d1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Slc35d1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Sandal gap, Flat acet... OMIM:256050
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Kyp... OMIM:271530
Anauxetic Dysplasia 1
Platyspondyly, Delayed ossification of carpal bones, Short finger, Rhizomelia, Hypoplastic ilia, ... OMIM:607095
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Convex nasal ridge, Platyspondyly, Short philtrum, Thin vermi... OMIM:156510
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Platyspondyly, Oligodontia, Metaphyseal irregularity, Joint contracture of the 5th f... OMIM:601668
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Short nose, Anteverted nares, Beaking of vertebral bod... OMIM:618961
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Delayed epiphyseal ossification, Meta... OMIM:602557
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteopor... OMIM:609052
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac wing, Hypoplastic pubic ... OMIM:608728
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly, Short greater sciatic notch, Coxa valga OMIM:271620
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Easily subluxated first metacarpophalangeal joints, Pierre-Robin sequence, Short... OMIM:311895
Fibrochondrogenesis 2
Platyspondyly, Short nose, Protuberant abdomen, Hypoplastic ilia, Metaphyseal cupping, Hypoplasti... OMIM:614524
Acrocephalopolydactyly
Abnormality of the mouth, Short nose, Protuberant abdomen, Limb undergrowth, Short long bone, Dep... ORPHA:221054
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... ORPHA:3104
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Broad toe,... OMIM:609616
Odontochondrodysplasia
Scoliosis, Platyspondyly, Delayed eruption of teeth, Short nose, Square pelvis bone, Bowing of th... ORPHA:166272
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar h... OMIM:609223
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Convex nasal ridge, Platyspondyly, Irregularity of vertebral bodies, Cone-shaped epiphyses of the... ORPHA:85172
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Enamel hypoplasia, Anteverted nares, Hypoplasia of the primary teeth, T... OMIM:234250
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Delayed pubic bone ossification, Platyspondyly, Short metata... ORPHA:1856
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Kyphoscol... ORPHA:93316
Odontochondrodysplasia 1
Scoliosis, Short phalanx of finger, Flared iliac wing, Death in infancy, Flat acetabular roof, Sm... OMIM:184260
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Kyphoscoliosis, Coxa valga OMIM:616583
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Club-shaped proximal femur, Delayed pubic bone ossification, Hyperlordosi... OMIM:184250
Dysostosis Multiplex, Ain-Naz Type
Scoliosis, Hypoplastic iliac wing, Hemivertebrae, Flat acetabular roof, Glenoid fossa hypoplasia,... OMIM:619345
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... ORPHA:99642
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Long philtrum, Short nose, Abnormality of epiphysis morphology, Protuberant abdome... ORPHA:50945
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Enlarged epiphyses, Pierre-Robin sequence, Cleft palate, Anteverted nares, Epiphys... OMIM:184840
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Cleft palate, Flared me... OMIM:601561
Autosomal Dominant Brachyolmia
Abnormality of the metaphysis, Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing ... ORPHA:85166
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Protuberant abdomen, Hypoplastic ilia, Metaphyseal cupping, Severe li... OMIM:151210
Czech Dysplasia
Scoliosis, Platyspondyly, Short metatarsal, Thoracic kyphosis, Narrow iliac wing, Narrow femoral ... OMIM:609162
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Flared femoral metaphysis, Abnormal metaphy... OMIM:156530
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Platyspondyly, Bilateral coxa valga, Abnormal vertebral morphology ORPHA:163665
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... OMIM:611702
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Flat capital femoral epiphysis, Genu varum, Platyspondyly OMIM:608361
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Pyle Disease
Scoliosis, Genu valgum, Platyspondyly, Delayed eruption of teeth, Carious teeth, Hypoplastic fron... OMIM:265900
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Short nose, Short columella, Short distal phalanx of finger, Dent... OMIM:155050
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the v... ORPHA:2370
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges o... OMIM:250215
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Metaphyseal irregularity, Bowing of the legs, Delayed epiphyseal ossification, Squared... ORPHA:93352
Acromicric Dysplasia
Long philtrum, Bulbous nose, Anteverted nares, Abnormality of epiphysis morphology, Short nose, N... ORPHA:969
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Dislocated radial head, Scoliosis, Platyspondyly, Abnormal vertebral morphology, A... ORPHA:93359
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Laryngotracheomalacia, Abnormal vertebral morphology, Aplasia/hypop... ORPHA:93346
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Hypoplastic iliac wing, Absent vertebral body mineralization, Short... OMIM:200610
Lethal Kniest-Like Dysplasia
Platyspondyly, Abnormal cartilage matrix, Short neck, Wide anterior fontanel, Coronal cleft verte... ORPHA:2347
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Rhizomelia, Short finger, Hypoplastic inferio... OMIM:608940
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Cleft palate, Cleft upper lip, Depressed nas... OMIM:613885
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal ... ORPHA:163966
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Nausea an... ORPHA:2107
Acromicric Dysplasia
Long philtrum, Short phalanx of finger, Bulbous nose, Narrow mouth, Ovoid vertebral bodies, Deep ... OMIM:102370
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Ring Chromosome 22 Syndrome
Midface retrusion, Lymphedema, Pleural effusion, 2-3 toe syndactyly, Large hands, Thick vermilion... ORPHA:1446
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial edema OMIM:155900
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Thoracic kyphosis, Ovoid vert... ORPHA:163649
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Platyspondyly, Rhizomelia, Coxa vara, Narrow greater s... OMIM:602271
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Depres... OMIM:228520
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Recurrent upper respira... ORPHA:239
Mental Retardation, X-Linked 91
Short nose, Clinodactyly, Small hand, Short foot, High palate, Short 5th finger, Macrodontia OMIM:300577
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Micrognathia, Thin upper lip vermilion, Cleft palate, ... ORPHA:2015
Anauxetic Dysplasia 3
Genu valgum, Squared iliac bones, Hip subluxation, Platyspondyly, Wide anterior fontanel, Feeding... OMIM:618853
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormality of epiphysis morphology, Micromelia ORPHA:93283
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Anteverted nares, Short finger, Kyphosis, Hyperextensibility of the finger joints,... OMIM:313420
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Aplasia/Hypoplasia of the capital femoral epiphysis, Platyspondyly, Short ph... OMIM:215150
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacar... OMIM:300863
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Recurrent respiratory infections, Back pain, Hemivertebrae, Vertebral fusion, A... OMIM:277300
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Short palm, Micromelia ORPHA:168555
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Hyperconvex vertebral bod... OMIM:184255
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Micrognathia, Abnormality of the dentition, Sandal ga... ORPHA:217340
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Metaphyseal enchondromatosis, Anisospondyly, Multiple ench... ORPHA:85198
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal irregularity, Metaphyseal cupping of metacarpals... OMIM:250460
Marshall-Smith Syndrome
Scoliosis, Short nose, Open mouth, Bowing of the long bones, Choanal atresia, Slender long bone, ... ORPHA:561
9q subtelomeric deletion syndrome
Midface retrusion, Protruding tongue DECIPHER:52
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Multiple Metaphyseal Dysplasia
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... ORPHA:93430
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Opsismodysplasia
Scoliosis, Squared iliac bones, Long philtrum, Short neck, Short nose, Protuberant abdomen, Rhizo... OMIM:258480
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short philtrum, Short neck, Downturned corners of mouth, Abnormality of epiphysis ... ORPHA:93267
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Platyspondyly, Short nose, Rhizomelia, Irregular iliac... ORPHA:168549
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Achondrogenesis Type 1A
Long philtrum, Short neck, Short nose, Aplasia/Hypoplasia of the lungs, Short foot, Micrognathia,... ORPHA:93299
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Phalangeal dislocation, Rhizomelia, Talipes equinovarus ORPHA:85174
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Natal tooth, Choanal atresia, High palate, Sho... OMIM:259775
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Irregular vertebral endplates, Schmorl's node, Heberd... OMIM:604864
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Short neck, Phalangeal dislocation, Camptodactyly, Rhizomelia, Smooth p... OMIM:264180
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Abnormal met... ORPHA:2631
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of carpal bones,... ORPHA:93351
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Int... OMIM:271630
Maxillonasal Dysplasia
Scoliosis, Patchy distortion of vertebrae, Open bite, Short nose, Short columella, Abnormality of... ORPHA:1248
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Short nose, Deep philtrum, Dysplastic sacrum, Metaphyseal cupping, Short rib... OMIM:613320
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Protu... OMIM:613330
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Short nose, Bronchiectasis, Malabsorption, Pneumonia, Protruding tongue, Diarrhea, ... OMIM:242860
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Flared iliac wing, Rhizomelia, Irregular sclerotic endplates, Metap... OMIM:602111
Achondrogenesis, Type Ib
Stillbirth, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Abdomina... OMIM:600972
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Feeding difficulties, Dental crowding, Kyphosis, 2-3 toe syndactyly, Thick vermilion ... OMIM:617061
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Thin ... OMIM:617866
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Short philtrum, Delayed eruption of teeth, Cone-shaped epiphysis, Dentinogenesis i... ORPHA:71267
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of dental morphology, Abnormal form of the vertebral bodies, Abnormality of the denti... ORPHA:1837
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Short rib... OMIM:187601
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... OMIM:226980
Greenberg Dysplasia
Platyspondyly, Abnormal form of the vertebral bodies, Rhizomelia, Abnormal pelvis bone ossificati... ORPHA:1426
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Protuberant abdomen, Postaxial polydact... OMIM:617102
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Platyspondyly, Delayed eruption of teeth, Short ... OMIM:612350
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Short neck, Short nose, Stillbirth, Protub... OMIM:200600
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal palate morphology, Mesomelia, Tooth agenesis, Abnormal shoulder morp... ORPHA:1277
Spondylocamptodactyly Syndrome
Scoliosis, Camptodactyly of finger, Platyspondyly ORPHA:3180
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Ritscher-Schinzel Syndrome 2
Scoliosis, Short philtrum, Overlapping toe, Camptodactyly, Short distal phalanx of finger, Protru... OMIM:300963
Developmental And Epileptic Encephalopathy 80
Long philtrum, Feeding difficulties, Micrognathia, High palate, Death in infancy, Wide mouth, Smo... OMIM:618580
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Capitat... OMIM:271650
Down Syndrome
Macroglossia, Short neck, Short nose, Narrow palate, Narrow mouth, Open mouth, Downturned corners... ORPHA:870
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Laryngotracheomalacia, Flat acetabular roof, Small epiphyses, Short femoral neck, Shor... ORPHA:94068
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Hypochondroplasia
Aplasia/hypoplasia of the extremities, Lumbar hyperlordosis, Short long bone, Flared metaphysis, ... OMIM:146000
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Pectus excavatum, Everted lower lip vermilion, Diastema, Wide ... OMIM:212066
Puerto Rican Infant Hypotonia Syndrome
Long philtrum, Narrow palate, Drooling, Open mouth, Constipation, Tapered finger, Chronic constip... OMIM:600096
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology OMIM:269630
Cantu Syndrome
Short hallux, Platyspondyly, Long philtrum, Erlenmeyer flask deformity of the femurs, Hypoplastic... OMIM:239850
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Short nose, Anteverted nares, Widely-spaced maxillary central incisors, Thick lower... OMIM:301040
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... OMIM:618363
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Scoliosis, Short neck, Platyspondyly, C... OMIM:304950
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Umbilical hernia, Intrauterine growth retardation, Protruding tongue, Skull asymmet... OMIM:612938
Saul-Wilson Syndrome
Talipes equinovarus, Convex nasal ridge, Platyspondyly, Short metatarsal, Wide anterior fontanel,... OMIM:618150
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Absent nasal bridge, Short neck, Rhizomelia, Short finger, Irregular ... OMIM:612813
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Short neck, Irregular epiphyses, Kyphosis, Hypoplastic iliac wing, Lumb... OMIM:313400
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Flared iliac wing, Short palm, Pectus excavatum, Cone-shaped epiphysis,... ORPHA:63446
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increased size of nasopha... ORPHA:457395
Spondylocamptodactyly
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Smith-Mccort Dysplasia 2
Genu valgum, Platyspondyly, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... OMIM:615222
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Pectus excavatum, Abnormal form of the vertebral bodies ORPHA:93302
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of epiphysis morphology, Micrognathia, Pectus exc... ORPHA:1388
Atelosteogenesis, Type I
Short metatarsal, Thoracic platyspondyly, Multinucleated giant chondrocytes in epiphyseal cartila... OMIM:108720
Osteogenesis Imperfecta, Type V
Platyspondyly, Biconcave vertebral bodies, Abnormality of the dentition, Anterior radial head dis... OMIM:610967
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Short nose, Overlapping toe, Thick vermilion border, Tented upper lip vermilion, T... OMIM:616723
Kniest Dysplasia
Platyspondyly, Short neck, Coronal cleft vertebrae, Hypoplastic pelvis, Flattened, squared-off ep... OMIM:156550
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Broad nasal tip, Flared iliac wing, Peg-like central prominence of distal tibial m... OMIM:300232
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Dental crowding, High palate, Radial deviation of finger, Wide nasal... OMIM:141750
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Irregular vertebral endplates, C... ORPHA:250984
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Thoracic kyphosis, Flattened femoral head, Abnormal cartilage morphology, Abnormal lum... ORPHA:93284
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Platyspondyly, Flattened femoral head, Lumbar hyperlordosis, Clinodactyly, Short neck, Epiphyseal... OMIM:184000
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Flared iliac wing, Kyphosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wide anterior fontanel, Shortening of all phalanges of fingers, Mesomelia, Limb un... OMIM:601356
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Bulbous nose, Everted lower lip vermilion, Smooth philtrum, Protruding... ORPHA:324410
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Short nose, Depressed nasal ridge, Abnormal f... ORPHA:2831
Microcephaly 26, Primary, Autosomal Dominant
Scoliosis, Long philtrum, Short nose, Feeding difficulties, Wide nasal bridge, Protruding tongue,... OMIM:619179
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Pectus excavatum, Long upper lip, Cleft palate, Kyphoscoliosis, Flared metaphysis,... OMIM:615349
Metaphyseal Acroscyphodysplasia
Scoliosis, Abnormality of femur morphology, Depressed nasal ridge, Bowing of the long bones, Cone... ORPHA:1240
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Carpal bone hypoplasia, Severe carpal ossification dela... OMIM:184252
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Flat acetabular roof... OMIM:615777
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Iliac cres... OMIM:223800
Down Syndrome
Atlantoaxial instability, Macroglossia, Hypoplastic iliac wing, Aganglionic megacolon, Protruding... OMIM:190685
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Feeding difficulties, Wide nasal bridge, Hemivertebrae, Ver... OMIM:615583
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Stillbirth, Constipation, Metaphyseal cupping, Death ... OMIM:241500
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Platyspondyly, Enlarged interphalangeal joints, Enlarged epiphyses, Scle... OMIM:208230
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Death in infancy, Short ribs, Pulmonary hypoplasia, Depre... OMIM:241800
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Broad thumb, Short nose, Anteverted nares, Dental crowding, Mesomelia, Sacral dimp... OMIM:616331
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Open mouth, Broad philtrum, Drooling, Delayed ossification of carpal bones, ... ORPHA:3010
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Hypoplastic ilia, Bowing of the long bones, Short greater sciatic notch... OMIM:187600
Hypochondroplasia
Scoliosis, Hyperlordosis, Abnormality of femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Morbus Scheuermann, Beaking of vertebral bodies, Pectus excavatum, Kyph... OMIM:108300
Kniest-Like Dysplasia, Lethal
Platyspondyly, Short neck, Wide anterior fontanel, Metaphyseal irregularity, Coronal cleft verteb... OMIM:245190
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Metaphyseal irregularity, Laryngotracheomalacia, Delayed epiphyseal o... ORPHA:93360
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Short neck, Short nose, Feeding difficulties, Narrow mouth, Gastroesophageal... OMIM:608779
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis... OMIM:184253
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Micrognathia... OMIM:249710
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Brachyolmia Type 3
Scoliosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short neck, Kyphosis, Radial... OMIM:113500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Platyspondyly, Delayed ossification of carpal bones, Pectus excavatum, Me... OMIM:617425
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Short nose, Narrow mouth, High palate, Everted lower lip vermilion... ORPHA:261120
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the tongue, Preaxial hand polydactyly, Short neck, Wide anter... ORPHA:3098
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Langer Mesomelic Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, High palate, Bowing of... ORPHA:2632
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flattened epiphysis, Abnormality of the metaphysis, Short femoral neck, Tapered fi... ORPHA:157965
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly, Metaphyseal irregularity, Abnormality of dental morphology, Wide humerus, Metaphys... ORPHA:319195
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Brachytelomesoph... ORPHA:2619
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Abnormality of epiphysis morphology, Protuberant abdomen, Constipation, Absent ossi... ORPHA:226313
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Edema, Cleft palate, Intrauterine growth retardation, Talipes equinovarus OMIM:616570
Kleefstra Syndrome 1
Macroglossia, Anteverted nares, Everted lower lip vermilion, Gastroesophageal reflux, Natal tooth... OMIM:610253
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Intestinal malrotation, Sa... OMIM:215140
Lamb-Shaffer Syndrome
Scoliosis, Bulbous nose, Overlapping toe, Open mouth, Dental crowding, Wide nasal bridge, Clinoda... OMIM:616803
Bainbridge-Ropers Syndrome
Scoliosis, Short nose, Anteverted nares, Feeding difficulties, Dental crowding, Everted lower lip... OMIM:615485
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Pursed lips, Platyspondyly, Narrow mouth, Deep philtrum, Absent ossification of capital femoral e... OMIM:245160
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Metaphyseal irregularity, Laryngotracheomalacia, Thoracic kyphosis, Flat capital fe... OMIM:271510
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Micrognathia, Micromelia ORPHA:1423
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Anteverted nares, Recurrent upper respiratory tract infections, Short... OMIM:300209
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Platyspondyly, Ky... ORPHA:2655
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Short neck, Irregular vertebral endplates, Lumbar hyperlordosis, Avascular necrosi... OMIM:184100
Kniest Dysplasia
Laryngotracheomalacia, Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, ... ORPHA:485
17P13.3 Microduplication Syndrome
Short neck, Short nose, Congenital hip dislocation, Narrow mouth, High palate, Clinodactyly of th... ORPHA:217385
Mucopolysaccharidosis, Type Iva
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Carious teeth, Constricted iliac wing, Recu... OMIM:253000
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Scoliosis, Short nose, Feeding difficulties in infancy, Narrow nasal bridge OMIM:618379
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Carious teeth, Constricted iliac wing, Recu... OMIM:253010
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Long philtrum, Toe syndactyly, Dysphagia, Cone-shaped epiphyses of the distal phal... OMIM:618958
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short nose, Narrow mouth, Short foot, Wide nasal bridge, Cleft palate, Sh... OMIM:614078
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Abnormality of the metacarpal bone... ORPHA:950
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Kyphosis, Ovoid vertebral bodies... ORPHA:93315
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Intervertebral... OMIM:614135
Marshall Syndrome
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Micrognathia, Ulnar bowing, D... OMIM:154780
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Bulbous nose, Short nose, Camptodactyly, Pectus excavatum, Hip dislocati... OMIM:613458
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Pectus excavatum, Kyphosis, Short lower limbs, Dentinogenesis imperfecta OMIM:259440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Platyspondyly, Metaphyseal irregularity, Carpal bone hypoplasi... OMIM:618395
Pitt-Hopkins-Like Syndrome 2
Scoliosis, Drooling, Feeding difficulties, Constipation, Gastroesophageal reflux, Wide mouth, Pro... OMIM:614325
Hyperphosphatasia With Mental Retardation Syndrome 6
Shortening of all distal phalanges of the fingers, Hip dysplasia, Bulbous nose, Feeding difficult... OMIM:616809
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Flattened metacarpal heads, Flattened metatarsal heads OMIM:271600
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Epiphyseal stippling, Death in infancy, Glossoptosis OMIM:614876
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... ORPHA:1458
Short Stature-Obesity Syndrome
Limb undergrowth, Narrow nose, Clinodactyly of the 5th finger, Prominent nasal bridge, Micrognath... OMIM:269870
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Kyphosis, Coxa vara, ... ORPHA:93314
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Anteverted nares, Short nose, Deviation of finger ORPHA:1450
Ollier Disease
Platyspondyly, Abnormal cartilage morphology, Multiple enchondromatosis, Abnormality of the metap... ORPHA:296
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Narrow mouth, Bowing of the long bones, Wide nasal bridge, Short long bone, Neonat... OMIM:224410
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Hypoplasia of the nasal bone, Metaphyseal irregularity, Aplasia of th... ORPHA:93357
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Delayed pubic bone ossification, Atlantoaxial instability, Platyspondyly, Short neck, ... OMIM:183900
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification... OMIM:271665
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Convex nasal ridge, Metaphyseal chondrodysplasia, Shor... OMIM:250230
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Bowing of the long bones,... ORPHA:1802
Angelman Syndrome
Macroglossia, Drooling, Flat occiput, Wide mouth, Protruding tongue, Brachycephaly, Widely spaced... OMIM:105830
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Wide mouth, Protruding tongue, Brachycephaly, Gingival overgrowth OMIM:618797
Pierpont Syndrome
Scoliosis, Prominent median palatal raphe, Thin vermilion border, Broad nasal tip, Short nose, Fe... OMIM:602342
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Coxa valga OMIM:230600
Mucopolysaccharidosis Type 4
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Carious teeth, Abnormal dental enamel morph... ORPHA:582
Osteoglophonic Dysplasia
Short metatarsal, Short phalanx of finger, High palate, Short neck, Depressed nasal bridge, Long ... OMIM:166250
Non-Distal Trisomy 10Q
Scoliosis, Convex nasal ridge, Short nose, Pectus excavatum, Everted lower lip vermilion, High pa... ORPHA:1695
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Narrow m... OMIM:304120
Ruvalcaba Syndrome
Scoliosis, Short metatarsal, Short phalanx of finger, Underdeveloped nasal alae, Dental crowding,... OMIM:180870
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brachydactyly OMIM:611263
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Broad long bone diaphyses, Flared iliac wing, ... OMIM:300106
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Pectus excavatum, Limb undergrowth, Kyphoscoliosis, Brach... OMIM:122900
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Depressed nasal bridge, S... ORPHA:15
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Short femur, Wide anterior fontanel, Split h... ORPHA:1860
Congenital Sialidosis Type 2
Polydactyly, Umbilical hernia, Protruding tongue, Inguinal hernia, Edema, Ascites, Gingival overg... ORPHA:93400
Adenylosuccinate Lyase Deficiency
Long philtrum, Flat occiput, Smooth philtrum, Thin upper lip vermilion, Brachycephaly, Prominent ... ORPHA:46
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Short neck, Short nose, Abnormality of dental morphology,... ORPHA:1716
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Femoral-Facial Syndrome
Hip dysplasia, Scoliosis, Long philtrum, Short femur, Radioulnar synostosis, Short nose, Preaxial... ORPHA:1988
Multiple Synostoses Syndrome 3
Cutaneous syndactyly of toes, Humeroradial synostosis, Broad thumb, Hallux varus, Metacarpal syno... OMIM:612961
Microspherophakia-Metaphyseal Dysplasia
Metaphyseal dysplasia, Irregular epiphyses, Flattened moderately deformed vertebrae, Spinal steno... OMIM:157151
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Delayed epiphyseal ossification, Short phalanx of finger, Irregular epiphyses, Ovoid... OMIM:132400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short femur, Short neck, Short nose, Pleural effusion, Limb undergrowth, Decreased... OMIM:616897
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Synostosis of carp... ORPHA:2639
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Downturned corners of mouth, Midface retrusion, Everted lower lip vermilion, Flat o... ORPHA:96147
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epiphyses of the p... OMIM:602875
Familial Scaphocephaly Syndrome, Mcgillivray Type
Open bite, Toe syndactyly, Midface retrusion, Broad hallux phalanx, Trigonocephaly, High palate, ... ORPHA:168624
Angelman Syndrome Due To A Point Mutation
Drooling, Flat occiput, Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:411511
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Short nose, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares ORPHA:1355
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Limb undergrowth, Short ribs, Abnormality of the metaphysis, Abnormal... ORPHA:1803
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu valgum, Abnormality of epiphysis morphology, Abnormality of the epiphyses of the elbow, Frag... ORPHA:166002
Whistling Face Syndrome, Recessive Form
Long philtrum, Short neck, Narrow mouth, Underdeveloped nasal alae, Camptodactyly, High palate, K... OMIM:277720
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Long philtrum, Abnormal metatarsal morphology, Anteverted nares, Hypoplastic pelvis, Thick lower ... ORPHA:163654
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Absent uvula, Broad thumb, Short nose, Anteverted nares, Camptodactyly, Mesomelia,... OMIM:618529
Pyknoachondrogenesis
Aplastic pubic bones, Short iliac bones, Abnormality of mouth shape, Poorly ossified vertebrae, A... ORPHA:3003
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Abnormal form of the vertebral bodies, Limb undergrowth, Ab... ORPHA:3429
Mucopolysaccharidosis, Type Vii
Scoliosis, Genu valgum, Thoracolumbar kyphosis, Platyspondyly, Recurrent upper respiratory tract ... OMIM:253220
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Iliac crest serration, Flat... OMIM:250220
Dental Anomalies And Short Stature
Platyspondyly, Amelogenesis imperfecta, Oligodontia, Herniation of intervertebral nuclei, Interve... OMIM:601216
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Scoliosis, Drooling, Feeding difficulties, Dysphagia, Constipation, Wide mouth, Protruding tongue... ORPHA:98794
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal distention, Abdominal pain ORPHA:313906
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Opsismodysplasia
Squared iliac bones, Broad thumb, Short nose, Abnormality of epiphysis morphology, Pectus excavat... ORPHA:2746
Osteogenesis Imperfecta, Type Ii
Convex nasal ridge, Platyspondyly, Broad long bones, Crumpled long bones, Tibial bowing, Abnormal... OMIM:166210
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Short neck, Short nose, Gingival fibromatosis, G... ORPHA:1832
Clark-Baraitser Syndrome
Long philtrum, Short nose, Downturned corners of mouth, Wide mouth, Sandal gap, Clinodactyly, Hig... OMIM:617752
Schimke Immunoosseous Dysplasia
Hypoplasia of the capital femoral epiphysis, Platyspondyly, Bulbous nose, Protuberant abdomen, Th... OMIM:242900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Abdominal distention, Malabsorption, Gastrointestinal... OMIM:613662
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palate morphology, Short 5th metaca... ORPHA:1350
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Feeding difficulties, Dysphagia, Wide mouth, Protruding tongue, Poor suck, Widely spaced teeth ORPHA:98795
Dysosteosclerosis
Oligodontia, Natal tooth, High palate, Micrognathia, Hypoplastic vertebral bodies, Narrow iliac w... OMIM:224300
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodies, Kyphosis, Death in i... ORPHA:1354
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Frontal bossing, Aganglionic megacolon, Cleft palate, Lobulated tongu... OMIM:174300
Autosomal Recessive Omodysplasia
Long philtrum, Hypoplastic distal humeri, Short nose, Rhizomelia, Abnormality of the radius, Meso... ORPHA:93329
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Cleft palate, Cleft upper lip, Depressed na... OMIM:601016
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Genu valgum, Small cervical vertebral bodies, Cervical platyspondyly, ... OMIM:169170
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Abnormality of ... ORPHA:177
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Intestinal malrotati... ORPHA:1505
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum, Long philtrum, Hypoplasia of the radius, Short neck, Short nose, Anteverted ... OMIM:602613
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Platyspondyly, Long philtrum, Finger syndactyly, Broad hallux phalanx, Ovoid verteb... ORPHA:1517
Anauxetic Dysplasia 2
Hyperlordosis, Macroglossia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Cervical spi... OMIM:617396
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Open mouth, Vomiting, High palate, Short neck, Micrognathia, Widely-spaced maxillary central inci... OMIM:309580
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Narrow palate, Overlapping toe, Depressed nasal ridge, Recurrent gastroente... ORPHA:99843
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Short ribs, Laryngeal calcificatio... OMIM:215045
Gm1 Gangliosidosis Type 1
Platyspondyly, Long philtrum, Macroglossia, Broad long bone diaphyses, Flared iliac wing, Feeding... ORPHA:79255
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Short nose, Narrow mouth, Abnormal palate morphology, Gastroesophageal r... ORPHA:1495
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Abnormality of the metaphysis, Depressed nasal bridge, Hyperlordosis, Lo... ORPHA:354
Ruvalcaba Syndrome
Scoliosis, Convex nasal ridge, Thin vermilion border, Abnormality of vertebral epiphysis morpholo... ORPHA:3121
Kyphomelic Dysplasia
Radial bowing, Platyspondyly, Short femur, Ulnar bowing, Dumbbell-shaped humerus, Short humerus, ... OMIM:211350
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Short phalanx of finger, Bulbous nose, Narrow mouth, Open mouth, Aceta... ORPHA:508533
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Dislocated radial head, Platyspondyly, Thin vermilion border, Long philtrum, Kyphoscol... OMIM:614856
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Narrow mouth, Short distal phalanx of finger... OMIM:311300
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue, Ulnar deviation of finger, Brachydactyly, Abnormality o... ORPHA:2928
Mohr Syndrome
Scoliosis, Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobulated tongue, H... OMIM:252100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Pectus excavatum, Short 5th me... OMIM:617877
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Short nose, Feeding difficulties, Wide nasal bridge, Anteverted nares, Depressed n... OMIM:616430
Epilepsy, Progressive Myoclonic, 9
Scoliosis, Microglossia, Short thumb OMIM:616540
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Pectus excavatum, Bowing of the legs, Limb undergrowth ORPHA:156728
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Short distal phalanx of toe, Short distal phalanx o... ORPHA:79345
Diaphanospondylodysostosis
Lumbosacral meningocele, Short neck, Short nose, Protuberant abdomen, Tracheomalacia, Hammertoe, ... OMIM:608022
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis, Short philtrum, Tooth malposition, Feeding difficulties in infancy, Eve... ORPHA:1387
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Pierre-Robin s... ORPHA:93296
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Short nose, Abnormality of the vertebral column, Anosmia, Short distal phal... OMIM:302950
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Toe syndactyly, Short nose, Anteverted nares, Abnormal form o... ORPHA:1327
Bruck Syndrome 1
Scoliosis, Platyspondyly, Protrusio acetabuli, Kyphosis, Coxa vara, Talipes equinovarus, Vertebra... OMIM:259450
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Prominent metopic ridge OMIM:275595
Icf Syndrome
Macroglossia, Micrognathia, Protruding tongue, Malabsorption, Recurrent respiratory infections, D... ORPHA:2268
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Brachydactyly, Re... OMIM:618618
Potocki-Shaffer Syndrome
Short philtrum, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Wide nasal br... OMIM:601224
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Abnormality of the epiphysis of the femoral head, Acu... OMIM:618641
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Camptodactyly, Protein-losing enteropathy, Decreased liver function, Diarrhea, Vom... OMIM:608104
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Joubert Syndrome 1
Macroglossia, Postaxial hand polydactyly, Plagiocephaly, Protruding tongue, Clinodactyly, Postaxi... OMIM:213300
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... OMIM:113000
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Platyspondyly, Pectus excavatum, Coxa vara, Bowing of the legs, Barrel-shaped chest, B... OMIM:619131
Brachyolmia Type 2
Platyspondyly OMIM:613678
Baker-Gordon Syndrome
Scoliosis, Short nose, Feeding difficulties, Gastroesophageal reflux, Smooth philtrum, Prominent ... OMIM:618218
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Scoliosis, Hypoplastic cervical vertebrae, Abnormality of... ORPHA:628
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Prominent median palatal raphe, Kyphosis, Maxillary lateral incisor micro... OMIM:300602
Thanatophoric Dysplasia Type 2
Platyspondyly, Micromelia, Kyphosis, Aplasia/Hypoplasia of the lungs, Abnormality of the metaphys... ORPHA:93274
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Short nose, Feeding difficulties, Open mouth, Camptodactyly, Thin upper lip vermili... OMIM:613604
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Macroglossia, Epiphyseal stippling, High palate, Protruding tongue, Metatarsu... OMIM:214100
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Still... OMIM:200700
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Platyspondyly, Short neck, Congenital hip dislocation, Coronal cleft vertebrae, Narr... OMIM:255800
Miller-Dieker Syndrome
Short nose, Sacral dimple, Abnormality of upper lip, Clinodactyly of the 5th finger, Anteverted n... ORPHA:531
Achondrogenesis Type 1B
Long philtrum, Short neck, Short nose, Aplasia/Hypoplasia of the lungs, Short foot, Talipes equin... ORPHA:93298
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Feeding difficulties in infancy, Cone-shaped epiphysi... ORPHA:474
Kyphomelic Dysplasia
Abnormal form of the vertebral bodies, Bowing of the long bones, Large hands, Flat acetabular roo... ORPHA:1801
Fontaine Progeroid Syndrome
Scoliosis, Oligodontia, Narrow mouth, Death in infancy, Short distal phalanx of finger, Absent di... OMIM:612289
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Neonatal deat... OMIM:227270
Thyroid Hemiagenesis
Macroglossia, Constipation, Abdominal distention ORPHA:95719
Craniofaciofrontodigital Syndrome
Long philtrum, Abnormal thumb morphology, Short nose, Anteverted nares, Thick vermilion border, W... ORPHA:363705
Angelman Syndrome
Scoliosis, Nasogastric tube feeding, Drooling, Feeding difficulties, Dysphagia, Constipation, Gas... ORPHA:72
Trisomy 20P
Scoliosis, Thin vermilion border, Downturned corners of mouth, Short neck, Micrognathia, Preaxial... ORPHA:261318
Juvenile Sialidosis Type 2
Protruding tongue, Inguinal hernia, Umbilical hernia, Gingival overgrowth ORPHA:93399
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans