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 embryo size Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
cleft palate Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal tail morphology Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal head shape Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal coat appearance Slc35d1tm2b(EUCOMM)Hmgu HET Early adult 4.64×10-05
abnormal facial morphology Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
protruding tongue Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
preweaning lethality, complete penetrance Slc35d1tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased cornea thickness Slc35d1tm2b(EUCOMM)Hmgu HET Early adult 1.09×10-12
abnormal limb morphology Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal body wall morphology Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal eye anterior chamber depth Slc35d1tm2b(EUCOMM)Hmgu HET Early adult 2.15×10-05
edema Slc35d1tm2b(EUCOMM)Hmgu HOM E18.5 0.00
decreased prepulse inhibition Slc35d1tm2b(EUCOMM)Hmgu HET Early adult 5.05×10-05

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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 0.71% (4 of 563)
aorta 0.18% (1 of 567)
bone 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cecum 3.08% (11 of 357)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 557)
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.36% (2 of 563)
oral epithelium 0.0%
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
striatum 0.54% (3 of 556)
testis 1.08% (6 of 557)
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.26% (12 of 368)
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 2.56% (1 of 39)
axial skeleton 2.17% (1 of 46)
brain 1.05% (4 of 382)
central nervous system ganglion 1.85% (1 of 54)
cranium 2.04% (1 of 49)
dorsal root ganglion 2.08% (1 of 48)
ear 0.25% (1 of 395)
embryo 0.0%
external ear 1.79% (1 of 56)
eye 0.27% (1 of 375)
femur pre-cartilage condensation 0.0%
footplate 0.26% (1 of 378)
forearm 0.0%
forebrain 0.26% (1 of 388)
forelimb 0.28% (1 of 358)
fronto-nasal process 0.0%
gut 2.38% (1 of 42)
handplate 0.0%
head 1.05% (4 of 381)
head mesenchyme 1.92% (1 of 52)
heart 0.0%
heart ventricle 2.17% (1 of 46)
hindbrain 1.37% (5 of 365)
hindlimb 0.26% (1 of 384)
humerus pre-cartilage condensation 2.17% (1 of 46)
inner ear 1.92% (1 of 52)
intestine 2.63% (1 of 38)
liver 0.27% (1 of 377)
lower leg 0.0%
lung 0.27% (1 of 369)
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female 2.5% (1 of 40)
mesonephros of male 2.56% (1 of 39)
metanephros 0.0%
midbrain 0.27% (1 of 365)
nasal septum 2.27% (1 of 44)
nose 1.64% (1 of 61)
notochord 2.13% (1 of 47)
oral cavity 0.26% (1 of 379)
outflow tract 2.38% (1 of 42)
pancreas 2.56% (1 of 39)
pericardium 2.27% (1 of 44)
pharynx 0.0%
radius-ulna pre cartilage condensation 2.13% (1 of 47)
rib pre-cartilage condensation 0.0%
skeleton 1.56% (1 of 64)
skin 0.0%
spinal cord 1.75% (1 of 57)
stomach 2.44% (1 of 41)
tail 0.27% (1 of 370)
tail somite group 0.27% (1 of 368)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.13% (1 of 47)
trachea 0.0%
trunk mesenchyme 0.0%
umbilical artery embryonic part 2.22% (1 of 45)
umbilical vein embryonic part 2.17% (1 of 46)
upper arm 0.43% (1 of 232)
upper leg 0.42% (1 of 238)
urinary system 2.13% (1 of 47)
vibrissa 1.82% (1 of 55)

Associated Images

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

Eye Morphology

VIP of right eye

15 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Skull Lateral Orientation

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
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Short femoral neck, Flared femoral metaphysis, Broad femoral ne... OMIM:609324
Spondylometaphyseal Dysplasia, Schmidt Type
Poor suck, Abnormality of the vertebral column, Abnormal ilium morphology, Micrognathia, Scoliosi... ORPHA:93316
Brachyolmia Type 1, Hobaek Type
Short neck, Kyphosis, Short femoral neck, Intervertebral space narrowing, Back pain, Sclerotic fo... OMIM:271530
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Short neck, Rhizomelia, Cervical subluxation... OMIM:607095
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Vertebral wedging, Platysp... OMIM:617719
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Upper-limb metaphyseal irregul... OMIM:618728
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irreg... OMIM:601668
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Scoliosis, Abnormality of femoral epiphysis, Irregular carpal ... ORPHA:750
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Short 5th metacarpal, Multiple small vertebral fractures, Convex nasal ridge, Pla... OMIM:156510
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Squared iliac bones, Bea... OMIM:618961
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... OMIM:609052
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly OMIM:271620
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Frontal bossing, Short dis... OMIM:311895
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Protuberant abdomen, Metaphyseal cupping,... OMIM:614524
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Clinodactyly o... ORPHA:3104
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Square pelvis bone, Short palm, ... ORPHA:166272
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... OMIM:609616
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Flat capital femoral epiphysis, Genu varum, Thoracic kyphosis, Intervertebral space narrowing, Br... OMIM:609223
Acrocephalopolydactyly
Brachydactyly, Short neck, Depressed nasal ridge, Protuberant abdomen, Limb undergrowth, Short lo... ORPHA:221054
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Feeding difficulties in infancy, Kyphosis, Enamel hypoplasia, U-Shaped upper lip v... OMIM:234250
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Overhanging nasal tip, Cone-shaped epiphyses of the... ORPHA:85172
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Irregular acetabular roof, Platyspondyly, Metap... OMIM:617974
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Hypoplastic ilia OMIM:616583
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Protuberant abdomen, Delayed pub... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Short femoral neck, Broad radial metaphysis, Wide distal fem... ORPHA:99642
Dysostosis Multiplex, Ain-Naz Type
Elongated femoral neck, Hypoplastic iliac wing, Abdominal distention, Scoliosis, Wide humerus, Fl... OMIM:619345
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Protuberant abdomen, Metaphys... OMIM:151210
Dyssegmental Dysplasia With Glaucoma
Short long bone, Platyspondyly, Flared metaphysis, Micromelia, Delayed epiphyseal ossification, B... OMIM:601561
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Enlarged epiphyses, Platyspondyly, Anteverted nares, Cleft palate, Epiphys... OMIM:184840
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Abnormality of the metaphysis, Platyspondyly, Increased vertebral height ORPHA:93304
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Abnormal ilium morphology, Abnormal vertebral morphology, Platyspondyly ORPHA:163665
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Microme... OMIM:184260
Blomstrand Lethal Chondrodysplasia
Bowing of the long bones, Long philtrum, Abnormality of epiphysis morphology, Short metacarpal, P... ORPHA:50945
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Short lo... OMIM:611702
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Genu varum, Genu valgum, Platyspondyly OMIM:608361
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Hypoplastic scapula... ORPHA:85166
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Short distal phalanx of finger, Depressed nasal bridge, Patchy distortion of ... OMIM:155050
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Metaphyseal irregularity, Short neck, Short ribs, Protuberant abdomen, Delayed pubic ... OMIM:613330
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Bifid uvula, Abnormal pelvis bone morphology, Sandal gap, Flared femoral... ORPHA:1427
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormal form of the v... ORPHA:2370
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Spondylometaphyseal Dysplasia, Kozlowski Type
Carpal bone hypoplasia, Halberd-shaped pelvis, Delayed ossification of carpal bones, Irregular ca... OMIM:184252
Acromicric Dysplasia
Narrow mouth, Brachydactyly, Ovoid vertebral bodies, Long philtrum, Bulbous nose, Abnormality of ... ORPHA:969
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Abnormality of epiphysis morphology, Dislocated radial head, Long upper lip, Beaking... ORPHA:93359
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, P... OMIM:619598
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Hall-Riggs Syndrome
Brachydactyly, Thick vermilion border, Delayed eruption of teeth, Abnormality of epiphysis morpho... ORPHA:2107
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bodies, Short... OMIM:608940
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Arthralgia of the hip, Genu valgum, Hip... ORPHA:166011
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Short ribs, Barrel-shaped chest, Hypoplastic iliac wing, Ab... OMIM:200610
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Short ribs, Pro... ORPHA:2347
Ring Chromosome 22 Syndrome
Dolichocephaly, 2-3 toe syndactyly, Pleural effusion, Midface retrusion, Lymphedema, Protruding t... ORPHA:1446
Acromicric Dysplasia
Narrow mouth, Ovoid vertebral bodies, Long philtrum, Bulbous nose, Short palm, Short metacarpal, ... OMIM:102370
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial edema OMIM:155900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short palm, Depressed nasal ridge, Rhizomelia, Metaphyseal chondrodysplasia, Plat... ORPHA:163966
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Depressed nasal ridge, Short 4th metacarpal, Epiphyseal stippling, Micro... OMIM:118651
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Long philtrum, Micrognathia, Cleft palate, Short nose, High palate, Slender finger, Thoracic kyph... ORPHA:163649
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Long philtrum, Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachy... OMIM:611717
Mental Retardation, X-Linked 91
High palate, Clinodactyly, Short 5th finger, Small hand, Macrodontia, Short foot, Short nose OMIM:300577
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Meckel Syndrome, Type 8
Cleft upper lip, Short neck, Depressed nasal ridge, Polydactyly, Abdominal distention, Postaxial ... OMIM:613885
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Tapered finger, Wide nasal bridge, Thoracolumbar scoliosis, Platyspondyly, Depressed na... OMIM:313420
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Platyspondyly, Abnormality of epiphysis morphology ORPHA:93283
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology, Micrognathia, Thin upper lip vermilion, Anteverted nar... ORPHA:2015
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Rhizomelia, M... OMIM:300863
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
17Q21.31 Microduplication Syndrome
Short philtrum, High palate, Toe syndactyly, Sandal gap, Clinodactyly of the 5th finger, Microgna... ORPHA:217340
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Metaphyseal irregularity, Delayed epiphyseal ossification, Short ... ORPHA:93352
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Thoracolumbar kyphoscoliosis, Short ... OMIM:618853
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Bowing of the long bones, Acromesomelia, Kyphosis, Ovoid vertebral bodies, Abnorma... ORPHA:40
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Platyspondyly, Lower limb undergrowth, Irregular vertebral end... OMIM:612847
Marshall-Smith Syndrome
Bowing of the long bones, Open mouth, Choanal atresia, Scoliosis, Slender long bone, Protruding t... ORPHA:561
9q subtelomeric deletion syndrome
Protruding tongue, Midface retrusion DECIPHER:52
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Pierre-Robin sequence, Coronal cleft vertebrae, Short long bone, Short palm, Bulbous nose, Short ... OMIM:215150
Dysspondyloenchondromatosis
Multiple enchondromatosis, Abnormality of ulnar metaphysis, Abnormality of fibula morphology, Pla... ORPHA:85198
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Abnormal ilium morphology, Irregularity of vertebral bodies, Broad femoral neck, Enla... ORPHA:1159
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Short palm, Platyspondyly, Coxa vara ORPHA:168555
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum OMIM:618732
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Raine Syndrome
Microdontia, Micrognathia, Micromelia, Cleft palate, Short nose, Narrow mouth, High palate, Brach... OMIM:259775
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Sandal gap, Broad femoral neck, Scoliosis, Sho... OMIM:251450
Spondylometaphyseal Dysplasia, Axial
Short femoral neck, Rhizomelia, Proximal femoral metaphyseal irregularity, Platyspondyly, Narrow ... OMIM:602271
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Short neck, Severe platyspondyly, Dysplastic sacrum, Short ribs, Deep philtru... OMIM:613320
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Depressed nasal... ORPHA:93430
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Rhizom... ORPHA:93267
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Opsismodysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Long philtrum, Short palm, Hypoplastic ve... OMIM:258480
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Platyspondyly, Short humerus, Deformed humeral heads... OMIM:601438
Pseudodiastrophic Dysplasia
Rhizomelia, Platyspondyly, Scoliosis, Talipes equinovarus, Phalangeal dislocation ORPHA:85174
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Beaking of vertebral bodies, Platyspondyly, Irregular vertebral endplates, Schmo... OMIM:604864
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Pseudodiastrophic Dysplasia
Short neck, Rhizomelia, Hypoplasia of the odontoid process, Platyspondyly, Tongue-like lumbar ver... OMIM:264180
Puerto Rican Infant Hypotonia Syndrome
High palate, Long philtrum, Drooling, Constipation, Open mouth, Tapered finger, Abdominal distent... OMIM:600096
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Short neck, Short femoral neck, Intervertebral space narrowing, Back pai... OMIM:271630
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Pear-shaped verteb... OMIM:602111
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Protuberant abdomen, Hypoplastic scapulae, Hypoplasia... OMIM:200600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Maxillonasal Dysplasia
Vertebral clefting, Depressed nasal ridge, Open bite, Short columella, Aplasia/Hypoplasia of the ... ORPHA:1248
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neonatal death,... OMIM:187601
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Triphalangeal thumb, Tapered finger, Tented upper lip vermilion, Wide... OMIM:618580
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Cone-shaped epiphysis, Platyspondyly, Prominent nasal ... ORPHA:71267
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal palate morphology, Convex nasal ridge, Micrognathia, Tooth agenesis, Meso... ORPHA:1277
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Micromelia, Abdominal distention, Hypo... OMIM:600972
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Scoliosis, Platyspondyly ORPHA:3180
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Narrow iliac wing, Irregular carpal bones, Genu valgum, Hip dislocation, High palate, Shortening ... OMIM:226980
Achondrogenesis Type 1A
Short neck, Long philtrum, Short palm, Micrognathia, Micromelia, Abdominal distention, Short nose... ORPHA:93299
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Ritscher-Schinzel Syndrome 2
Short philtrum, Clinodactyly, Protruding tongue, Broad hallux, Short distal phalanx of finger, Sc... OMIM:300963
Congenital Disorder Of Glycosylation, Type Iia
Coxa valga, Short neck, Thoracolumbar kyphoscoliosis, Macrodontia, Open mouth, Everted lower lip ... OMIM:212066
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, High palate, Flattened epiphysis, Bifid uvula, Delayed eruption o... OMIM:612350
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Short palm, Short metacarpal, Upper limb undergrowth, Broad femoral neck, Pla... OMIM:271650
Down Syndrome
Narrow mouth, Brachydactyly, Short neck, Depressed nasal ridge, Open mouth, Sandal gap, Microdont... ORPHA:870
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Protuberant abdomen, Sandal ga... OMIM:617102
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Clinodactyly, Coxa valga, Constipation, Gastroesophageal reflux, U-Shaped upper lip vermilion, Th... OMIM:301040
Greenberg Dysplasia
Brachydactyly, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Rhizomel... ORPHA:1426
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Abdominal distention, Death in infancy, Vertebral fusion,... OMIM:277300
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly OMIM:269630
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Cantu Syndrome
Coxa valga, Long philtrum, Broad first metatarsal, Short neck, Ovoid vertebral bodies, Thick lowe... OMIM:239850
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Lumba... OMIM:146000
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Skull asymmetry, Intrauterine growth retardation, Macroglossia, Umbil... OMIM:612938
Saul-Wilson Syndrome
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Convex nasal ri... OMIM:618150
Spondylocamptodactyly
Camptodactyly of finger, Camptodactyly, Cervical platyspondyly, Scoliosis OMIM:600000
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Micrognathia, Scoliosis, Genu valgum, Cleft pal... OMIM:618363
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Thoracic kyphosis, Short neck, Hypoplastic sacrum, Short femoral neck, Cone-s... OMIM:304950
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Spondyloperipheral Dysplasia
Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat capital femor... OMIM:271700
Brachyolmia, Maroteaux Type
Scoliosis, Abnormal form of the vertebral bodies, Platyspondyly, Pectus excavatum ORPHA:93302
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Clinodactyly, Short neck, Long philtrum, Triangular nasal tip, Wide nasal bridge, Ma... OMIM:141750
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Clinodactyly of the 5th finger, Micrognat... ORPHA:1388
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Short neck, Kyphosis, Short femoral neck, Platyspondyly, Barrel-shaped chest... OMIM:313400
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Short neck, Short metacarpal, Broad femoral neck, ... OMIM:615222
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Abnormal form of the vertebral bodies, Dep... ORPHA:1837
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Absent nasal bridge, Brachydactyly, Irregular epiphyses, Short neck, Rhizomelia, Platyspondyly, B... OMIM:612813
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Flare... ORPHA:63446
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Meso... ORPHA:2631
Spondyloepiphyseal Dysplasia Congenita
Micrognathia, Scoliosis, Genu valgum, Cleft palate, Aplasia/hypoplasia involving bones of the ext... ORPHA:94068
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, Drooling, Open mouth, Tapered finger, Hypoplasia of teeth, ... ORPHA:3010
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasi... ORPHA:168549
Autosomal Recessive Stickler Syndrome
Abnormality of epiphysis morphology, Platyspondyly, Micrognathia, Irregular vertebral endplates, ... ORPHA:250984
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, High palate, Broad nasal tip, Flattened epiphysis, Thoracic kyphosis, Short neck, ... OMIM:300232
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Platys... OMIM:230650
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short neck, Short femoral neck, Short metacarpal, Proximal femoral epiphysiolysis, Tented upper l... OMIM:616723
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Thoracic platyspondyly, 11 pairs of ribs, Microgna... OMIM:108720
Trehalase Deficiency
Abdominal pain, Abdominal distention, Malabsorption, Diarrhea, Vomiting ORPHA:103909
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Clinodactyly, Short neck, Platyspondyly, Flattened femoral head, Lumbar hyperlordosis, Hypoplasia... OMIM:184000
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Bulbous nose, Everted lower lip vermilion, Depressed nasal bridge, Pro... ORPHA:324410
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Abnormal form of the vertebral bodies, Depressed nasal ridge, Deviation of finger,... ORPHA:2831
Stickler Syndrome Type 1
Long philtrum, Abnormality of epiphysis morphology, Platyspondyly, Cleft palate, Abnormality of v... ORPHA:90653
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Shortening of all phalanges of fingers, Platyspondyly, Limb underg... OMIM:601356
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Arthralgia of t... ORPHA:93284
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Micrognathia, Macroglossia, Depressed nasal bridge, Malabsorption, Protruding tongue, Anteverted ... OMIM:242860
Kniest Dysplasia
Coronal cleft vertebrae, Short neck, Abnormal cartilage collagen, Platyspondyly, Flared metaphysi... OMIM:156550
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thoracic platyspondyly, Short toe, Genu v... OMIM:619636
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Wide nasal bridge, Feeding difficulties, Scoliosis, Prominent nasal bridge, Protru... OMIM:619179
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Sacral dimple, Long phil... OMIM:616331
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Carpal synostosis, Long upper lip, Platyspondyly, Pectus e... OMIM:615349
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Desbuquois Dysplasia 2
Genu varum, Bifid uvula, Long philtrum, Metaphyseal widening, Broad thumb, Cleft palate, Hip disl... OMIM:615777
Kniest-Like Dysplasia, Lethal
Narrow mouth, Brachydactyly, Metaphyseal irregularity, Coronal cleft vertebrae, Short neck, Hypop... OMIM:245190
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic iliac wing, Sc... OMIM:223800
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Enlarged epiphyse... OMIM:208230
Verheij Syndrome
Clinodactyly, Short neck, Long philtrum, Short 5th finger, Feeding difficulties, Wide nasal bridg... OMIM:615583
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Down Syndrome
Atlantoaxial instability, Shallow acetabular fossae, Short palm, Aganglionic megacolon, Anal atre... OMIM:190685
Osteogenesis Imperfecta, Type V
Abnormality of pelvic girdle bone morphology, Vertebral wedging, Anterior radial head dislocation... OMIM:610967
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neon... OMIM:187600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Brachydactyly, Broad nasal tip, Delayed ossification of carpal bones, Coxa valga, Cervical instab... OMIM:617425
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Kyphosis, Beaking of vertebral bodies, Platyspondyly, Pectus ... OMIM:108300
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Short neck, Overlapping fingers, Gastroesophageal reflux, Decreased liver function,... OMIM:608779
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Short 5th metacarpal, Short 4th metacarpal, Rhizomelia, Feeding difficulties, ... OMIM:619638
Mesomelic Limb Shortening And Bowing
Bowing of the arm, Bowing of the legs, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, A... ORPHA:141152
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Diarrhea, Vomiting ORPHA:35122
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Toe syndactyly, Toe clinodactyly, Long philtrum, Everted lower lip ver... ORPHA:261120
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Microglossia, Micromelia, Depressed nasal bridge, Hip dislocation, Post... OMIM:241800
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Aplasia of the middle phalanx of the hand, Abnormal... ORPHA:3168
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Narrow mouth, High palate, Absent ossification of capital femoral epiphysis, Cervical kyphosis, S... OMIM:245160
Kleefstra Syndrome 1
Brachydactyly, Everted lower lip vermilion, U-Shaped upper lip vermilion, Macroglossia, Natal too... OMIM:610253
Hypophosphatasia, Infantile
Bowing of the legs, Short lower limbs, Vertebral clefting, Constipation, Short ribs, Anorexia, Me... OMIM:241500
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Spinal stenosis with reduced interpedicular distance, Flattened moderately d... OMIM:157151
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Kyphoscoliosis, Hypoplastic cervical... OMIM:222600
Brachyolmia Type 3
Clinodactyly, Short neck, Kyphosis, Short femoral neck, Proximal femoral metaphyseal irregularity... OMIM:113500
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Metaphyseal irregularity, Platyspondyly, Micrognathia, Abnormality o... ORPHA:319195
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Platyspondyly, Protrusio acetabuli, Short toe, Abnormal femoral head morp... ORPHA:2619
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flattened epiphysis, Short femoral neck, Broad femoral neck, Tape... ORPHA:157965
Langer Mesomelic Dysplasia
Bowing of the long bones, High palate, Abnormality of the ulna, Aplasia/Hypoplasia of the fibula,... ORPHA:2632
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Feeding difficulties in infancy, Abnormality of... ORPHA:226313
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Long philtrum, Open bite, Irregular acetabular roof, Wi... OMIM:619698
Ollier Disease
Multiple enchondromatosis, Platyspondyly, Micromelia, Abnormal cartilage morphology, Abnormality ... ORPHA:296
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Micromelia, Depr... ORPHA:2635
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Micromelia, Limb undergrowth, Short long bone ORPHA:1423
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Clinodactyly, Anteverted nares, Shortening of all distal phalanges of the fingers, 2... OMIM:616809
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Clinodactyly, Recurrent upper respiratory tract infections, Short neck, Radial devia... OMIM:300209
Pitt-Hopkins-Like Syndrome 2
Drooling, Constipation, Gastroesophageal reflux, Feeding difficulties, Scoliosis, Protruding tong... OMIM:614325
Mucopolysaccharidosis, Type Iva
Recurrent upper respiratory tract infections, Coxa valga, Ovoid vertebral bodies, Kyphosis, Cervi... OMIM:253000
Developmental And Epileptic Encephalopathy 73
Feeding difficulties in infancy, Narrow nasal bridge, Scoliosis, Hip dysplasia, Short nose OMIM:618379
Marshall Syndrome
Long philtrum, Micrognathia, Small distal femoral epiphysis, Irregular femoral epiphysis, Cleft p... OMIM:154780
Ring Chromosome 8 Syndrome
Deviation of finger, Anteverted nares, Abnormal palate morphology, Short nose ORPHA:1450
Mucopolysaccharidosis, Type Ivb
Recurrent upper respiratory tract infections, Coxa valga, Ovoid vertebral bodies, Kyphosis, Cervi... OMIM:253010
Atelosteogenesis Type Ii
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... ORPHA:56304
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Brachydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, Short toe, Genu v... OMIM:614078
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Metaphyseal widening, Cleft palate, Dumbbell-shaped ... ORPHA:485
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Rocker bottom foot, Talipes equinovarus, Edema, Cleft palate OMIM:616570
Acrodysostosis
Abnormality of the ulna, Open bite, Cone-shaped epiphysis, Micromelia, Spinal canal stenosis, Sho... ORPHA:950
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Tapered finger, Short phalanx of finger, Pectus excavatum, Long fingers, Hip disloc... OMIM:613458
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Scoliosis, Fragmented epiphyses, Genu valgum, Abnormal metatarsal morphology, Hip dis... ORPHA:93360
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Epiphyseal stippling, Death in infancy, Glossoptosis OMIM:614876
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Short palm, Long philtrum, Cone-shaped epiphyses of the distal phalan... OMIM:618958
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Dislocated radi... OMIM:618395
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Pectus excavatum, Scoliosis, Short lower limbs, Dentinogenesis imperfecta OMIM:259440
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Platyspondyly, Flattened metacarpal heads OMIM:271600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Short neck, Cervical subluxation, Hypoplasia of the odontoid process, Platyspondyly, Barrel-shape... OMIM:184100
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal f... ORPHA:3098
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphol... ORPHA:103907
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Short neck, Clinodactyly of the 5th finger, Congenital hip dislocation... ORPHA:217385
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Delayed proximal femoral epiphyseal ossific... OMIM:250230
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Flat capital femoral epiphysis, Genu varum, Metaphyseal irregularity, Thoracic kyphosis, Delayed ... OMIM:271510
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Hypoplastic iliac wing, Scoliosis, Vertebral fusi... ORPHA:93315
Pierpont Syndrome
Broad nasal tip, Short neck, Short palm, Everted lower lip vermilion, Widely spaced teeth, Feedin... OMIM:602342
Gm1-Gangliosidosis, Type Ii
Coxa valga, Platyspondyly OMIM:230600
Angelman Syndrome
Drooling, Widely spaced teeth, Macroglossia, Brachycephaly, Flat occiput, Protruding tongue, Wide... OMIM:105830
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Narrow nose, Micrognathia, Micromelia, Prominent n... OMIM:269870
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Kyphosis, Platyspondyly, Micromelia, Depressed nasal br... ORPHA:2655
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... ORPHA:166002
Achondroplasia
Hip joint hypermobility, Spinal canal stenosis, Narrow greater sciatic notch, Brachydactyly, Bowi... ORPHA:15
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Abnormality of epiphysis morphology, Kyphosis, ... ORPHA:582
Non-Distal Trisomy 10Q
High palate, Everted lower lip vermilion, Convex nasal ridge, Micrognathia, Pectus excavatum, Dep... ORPHA:1695
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Flat occiput, Protruding tongue, Gingival overgrowth, Wide mouth OMIM:618797
Codas Syndrome
Brachydactyly, Coronal cleft vertebrae, Abnormality of pelvic girdle bone morphology, Delayed eru... ORPHA:1458
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Back pain,... ORPHA:2924
Osteoglophonic Dysplasia
Long philtrum, Pseudoarthrosis, Short nose, Bowing of the long bones, High palate, Short neck, Sh... OMIM:166250
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Cleft palate, Narrow mouth, Irregular metacarpal... OMIM:304120
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Mesomelia, Short foot OMIM:611263
Ruvalcaba Syndrome
Kyphosis, Short palm, Underdeveloped nasal alae, Short metacarpal, Narrow nose, Short phalanx of ... OMIM:180870
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Spondyloepiphyseal Dysplasia Congenita
Pierre-Robin sequence, Flattened epiphysis, Bifid uvula, Short neck, Ovoid vertebral bodies, Atla... OMIM:183900
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Keratoconus, Red hair OMIM:229200
Sponastrime Dysplasia
Abnormality of the vertebral column, Microdontia, Scoliosis, Metaphyseal widening, Genu valgum, H... ORPHA:93357
Congenital Sialidosis Type 2
Protruding tongue, Polydactyly, Inguinal hernia, Ascites, Umbilical hernia, Edema, Gingival overg... ORPHA:93400
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Pectus excavatum, Micromelia, Limb undergrowth, Massively thickened long bone cort... OMIM:122900
Atelosteogenesis Type I
Brachydactyly, Malrotation of colon, Coronal cleft vertebrae, Absent or minimally ossified verteb... ORPHA:1190
Greenberg Dysplasia
Hypoplastic vertebral bodies, 11 pairs of ribs, Micrognathia, Absent distal phalanges, Micromelia... OMIM:215140
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Scoliosis, Broad long bones, Short nose, High palate, Bowing of the leg... OMIM:271665
Distal Trisomy 18Q
High palate, Short neck, Deviation of finger, Progressive intervertebral space narrowing, Clinoda... ORPHA:1716
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Bowing of the long bones, Wide nasal bridge, Micrognathia, Anisospondyly, Short lon... OMIM:224410
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the long bones, Bowing of the legs, Brachydactyly, Metaphyseal irregularity, Ovoid vert... ORPHA:85167
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Rocker bottom foot, Epiphyseal stippling, Feeding difficulties, High, narrow palate,... OMIM:214100
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Broad nasal tip, Clinodactyly, Long philtrum, Wide nasal bridge, Micrognathia, Sho... OMIM:618529
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Femoral bowing, P... ORPHA:1860
Multiple Synostoses Syndrome 3
Dolichocephaly, Limited interphalangeal movement, Broad hallux, Humeroradial synostosis, Broad th... OMIM:612961
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Short toe, Short nose, Ovoid vertebral bodies, Cone-shape... OMIM:602875
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Short neck, Long philtrum, Proximal humeral metaphyseal ir... OMIM:602613
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Missing ribs, 2-3 toe syndactyly, Short ribs, Intestinal malro... OMIM:617866
Kleefstra Syndrome Due To 9Q34 Microdeletion
Everted lower lip vermilion, Macroglossia, Inguinal hernia, Midface retrusion, Brachycephaly, Fla... ORPHA:96147
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares, Short nose ORPHA:1355
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormality of the ulna, Abnormal thumb morphology, ... ORPHA:2639
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Long philtrum, Preaxial... ORPHA:1988
Angelman Syndrome Due To A Point Mutation
Drooling, Widely spaced teeth, Flat occiput, Protruding tongue, Wide mouth ORPHA:411511
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Short neck, Long philtrum, Underdeveloped nasal alae, Micrognathia, Mi... OMIM:277720
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Brachydactyly, Narrow philtrum, Abnormal palate morphology, Short neck, Long philtrum, Aplasia/Hy... ORPHA:163654
Adenylosuccinate Lyase Deficiency
Long philtrum, Smooth philtrum, Flat occiput, Brachycephaly, Thin upper lip vermilion, Prominent ... ORPHA:46
Clark-Baraitser Syndrome
High palate, Clinodactyly, Long philtrum, Sandal gap, Depressed nasal bridge, Downturned corners ... OMIM:617752
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short neck, Short ribs, Abnormality of fibula morph... ORPHA:1803
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Irregular acetabular roof, Cervic... OMIM:169170
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Poor suck, Drooling, Constipation, Widely spaced teeth, Feeding difficulties, Scoliosis, Dysphagi... ORPHA:98794
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Shallow acetabular fossae, Short neck, Bulbous nose, Ovoid vertebral bodies, P... OMIM:242900
Lethal Osteosclerotic Bone Dysplasia
Short neck, Depressed nasal ridge, Gingival fibromatosis, Micrognathia, Mandibular aplasia, Media... ORPHA:1832
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciatic notch, Brac... OMIM:250220
Congenital Pancreatic Cyst
Abdominal pain, Abdominal distention, Anorexia, Vomiting ORPHA:313906
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Poor suck, Widely spaced teeth, Feeding difficulties, Dysphagia, Protruding tongue, Wide mouth ORPHA:98795
Isolated Dandy-Walker Malformation
Prominent occiput, Frontal bossing, Platybasia, Cleft palate, Encephalocele ORPHA:217
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short neck, Short ribs, Decreased fibular diameter, Unilateral cleft lip, Wide nasal bridge, Plat... OMIM:616897
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Flared humeral metaphysis, Rhizomelia, Flared ... OMIM:183849
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Amelogenesis imperfecta, Intervertebral space narrowing, Oli... OMIM:601216
Cantú Syndrome
Thick vermilion border, Coxa valga, Long philtrum, Finger syndactyly, Short neck, Ovoid vertebral... ORPHA:1517
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Short 5th metacarpal, Aplasia... ORPHA:1350
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Tibial bowing, Convex nasal ridge, Crumpled long bo... OMIM:166210
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Rhizomelia, Epiphyseal stippling, Scoliosis, Abnormality of ... ORPHA:177
Baker-Gordon Syndrome
Gastroesophageal reflux, Feeding difficulties, Scoliosis, Smooth philtrum, Thin upper lip vermili... OMIM:618218
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Broad femoral neck, Mi... OMIM:224300
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Constipation, Gastrointestinal dysmotility, Abdominal pain, Abdominal distention, Malabsorption, ... OMIM:613662
Leukocyte Adhesion Deficiency Type Ii
Depressed nasal ridge, Deep philtrum, Wide nasal bridge, Chronic diarrhea, Overlapping toe, Depre... ORPHA:99843
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Abnormality of epiphysis morphology, H... ORPHA:2746
Pyknoachondrogenesis
Hypoplastic ischia, Aplastic pubic bones, Depressed nasal ridge, Short ribs, Poorly ossified vert... ORPHA:3003
Rhiny
Anteverted nares, Thin vermilion border, Short nose OMIM:180360
Ruvalcaba Syndrome
Narrow mouth, Brachydactyly, Synostosis of carpal bones, Kyphosis, Short metacarpal, Clinodactyly... ORPHA:3121
Autosomal Recessive Omodysplasia
Long philtrum, Rhizomelia, Micrognathia, Abnormality of the radius, Abnormality of femur morpholo... ORPHA:93329
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Depressed nasal ridge, Overlapping fingers, Micromelia, Limb undergrowth, Campto... OMIM:601016
Czech Dysplasia
Flat capital femoral epiphysis, Narrow iliac wing, Narrow femoral neck, Thoracic kyphosis, Short ... OMIM:609162
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Clinodactyly, Constipation, Tapered finger, Tented upper lip vermilion, Micrognathia, Macroglossi... OMIM:309580
Kyphomelic Dysplasia
Cleft upper lip, Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Platyspondyly, Microgn... OMIM:211350
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Athyreosis
Constipation, Abdominal distention, Feeding difficulties, Macroglossia ORPHA:95713
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Metaphyseal widening, Hip dislocation, Ovoid vertebral bodies, Thora... OMIM:252500
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Parietal Foramina 1
Cleft upper lip, Cleft palate, Symmetrical, oval parietal bone defects, Parietal foramina, Enceph... OMIM:168500
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Feeding difficulties in infancy, Abnormal distal phalanx morphology ... ORPHA:1387
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Scoliosis, Cleft pala... OMIM:311300
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Dislocated radial head, Platyspondyly, Arachnodactyly, Scoliosis, Kyphoscoliosis, ... OMIM:614856
Epilepsy, Progressive Myoclonic, 9
Microglossia, Scoliosis, Short thumb OMIM:616540
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Wide nasal bridge, Feeding difficulties, Depressed nasal bridge, Anteverted nares,... OMIM:616430
Mohr Syndrome
Broad nasal tip, Clinodactyly of the 5th finger, Agenesis of central incisor, Syndactyly, Microgn... OMIM:252100
Gm1 Gangliosidosis
Broad nasal tip, Long philtrum, Macroglossia, Scoliosis, Dysphagia, Coarse metaphyseal trabecular... ORPHA:354
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Lumbar hyperlordosis, Limb undergrowth, Pectus excavatum ORPHA:156728
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, Sandal gap, Clinodactyly... OMIM:617877
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Micromelia, Furrowed tongue, Ulnar d... ORPHA:2928
Chondrodysplasia Punctata 1, X-Linked Recessive
Abnormality of the vertebral column, Anosmia, Epiphyseal stippling, Short distal phalanx of finge... OMIM:302950
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Brachydactyly, Toe syndactyly, Sacral dimple, Abnormal form of the ver... ORPHA:1327
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Short 5th finger, Hypoplasia of the rad... OMIM:227270
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Abnormal palate morphology, Gastroesophageal reflux, Micrognathia, Camptodactyly of... ORPHA:1495
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long nose, Abnormal ilium morphology, Long philtrum, Micrognathia, Narrow greater sciatic notch, ... ORPHA:508533
Potocki-Shaffer Syndrome
Brachydactyly, Short philtrum, 2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide n... OMIM:601224
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Long philtrum, Decreased liver function, Talipes equinovarus, Abdominal distention, P... OMIM:608104
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Beaking of verteb... OMIM:618641
Gm1 Gangliosidosis Type 1
Broad nasal tip, Long philtrum, Hypoplastic vertebral bodies, Flared iliac wing, Feeding difficul... ORPHA:79255
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Prominent metopic ridge, Brachycephaly, Trigonocephaly, Broad phalanx, Broad metatarsal OMIM:275595
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Short neck, Epiphyseal stippling, Choanal atresia, Macroglossia, Short distal phal... ORPHA:1914
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Achondrogenesis Type 2
Pierre-Robin sequence, Absent vertebral body mineralization, Delayed proximal femoral epiphyseal ... ORPHA:93296
Brachyolmia Type 2