Gene Summary

Name:
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Synonyms:
D6Pas1,  Etl1

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
unresponsive to tactile stimuli Smarcad1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
unresponsive to tactile stimuli Smarcad1tm1b(EUCOMM)Hmgu HET E18.5 0.00
abnormal embryo size Smarcad1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
hyperactivity Smarcad1tm1b(EUCOMM)Hmgu HOM Early adult 1.87×10-05
preweaning lethality, incomplete penetrance Smarcad1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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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
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 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 0.0% (0 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 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Inner ear N/A heterozygote 0.0% (0 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 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 0.74% (4 of 537)
aorta 0.19% (1 of 528)
bone 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cecum 5.11% (18 of 352)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
esophagus 1.63% (6 of 367)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 546)
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
mesenteric lymph node 0.35% (1 of 285)
olfactory lobe 0.37% (2 of 537)
oral epithelium 0.0%
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
parathyroid gland 0.2% (1 of 508)
peripheral nervous system 0.19% (1 of 520)
peyers patch 0.0%
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
skeletal muscle 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
striatum 0.37% (2 of 535)
testis 0.95% (5 of 524)
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
trachea 0.55% (3 of 544)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vas deferens 4.26% (15 of 352)
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 1.79% (1 of 56)
axial skeleton 1.72% (1 of 58)
brain 1.26% (6 of 477)
central nervous system ganglion 0.0%
cranium 1.75% (1 of 57)
dorsal root ganglion 1.72% (1 of 58)
ear 0.21% (1 of 480)
embryo 0.42% (2 of 479)
external ear 1.43% (1 of 70)
eye 0.21% (1 of 480)
femur pre-cartilage condensation 2.08% (1 of 48)
footplate 0.21% (1 of 480)
forearm 0.35% (1 of 284)
forebrain 0.21% (1 of 468)
forelimb 0.21% (1 of 468)
fronto-nasal process 1.75% (1 of 57)
gut 1.82% (1 of 55)
handplate 0.21% (1 of 475)
head 1.04% (5 of 479)
head mesenchyme 1.79% (1 of 56)
heart 0.21% (1 of 471)
heart ventricle 1.72% (1 of 58)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 479)
humerus pre-cartilage condensation 1.64% (1 of 61)
inner ear 1.61% (1 of 62)
intestine 1.89% (1 of 53)
liver 0.21% (1 of 474)
lower leg 0.35% (1 of 282)
lung 0.22% (1 of 462)
mandibular process 0.21% (1 of 479)
maxillary process 0.21% (1 of 470)
mesonephros of female 1.92% (1 of 52)
mesonephros of male 2.04% (1 of 49)
metanephros 2.08% (1 of 48)
midbrain 0.21% (1 of 471)
nasal septum 1.79% (1 of 56)
nose 1.39% (1 of 72)
notochord 1.89% (1 of 53)
oral cavity 0.21% (1 of 470)
outflow tract 1.79% (1 of 56)
pancreas 0.0%
pericardium 2% (1 of 50)
pharynx 2.04% (1 of 49)
radius-ulna pre cartilage condensation 1.61% (1 of 62)
rib pre-cartilage condensation 1.82% (1 of 55)
skeleton 1.35% (1 of 74)
skin 0.0%
spinal cord 1.47% (1 of 68)
stomach 2% (1 of 50)
tail 0.21% (1 of 470)
tail somite group 0.0%
thoracic vertebral cartilage condensation 1.96% (1 of 51)
tongue 1.92% (1 of 52)
trachea 1.89% (1 of 53)
trunk mesenchyme 1.75% (1 of 57)
umbilical artery embryonic part 1.85% (1 of 54)
umbilical vein embryonic part 1.75% (1 of 57)
upper arm 0.34% (1 of 290)
upper leg 0.35% (1 of 282)
urinary system 1.75% (1 of 57)
vibrissa 1.49% (1 of 67)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Eye Morphology

VIP of right eye

20 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Eye Morphology

VIP of left eye

20 Images

Eye Morphology

VIP of left fundus

20 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

MicroCT E18.5

Embryo reconstruction

5 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by Smarcad1 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 Smarcad1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Adermatoglyphia
Clubbing OMIM:136000
Basan Syndrome
Flexion contracture of digit, Cutaneous syndactyly of toes, Tapered finger OMIM:129200
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger ORPHA:1658
Huriez Syndrome
Tapered finger OMIM:181600
Huriez Syndrome
ORPHA:384

The table below shows human diseases predicted to be associated to Smarcad1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Severe short stature, Short... OMIM:277300
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... OMIM:609813
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina bifida occulta, Ab... OMIM:613686
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Micrognathia, Premature sternal synostosis, Cryptorchidism, Abnormal heart morphology OMIM:184800
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... OMIM:608681
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Severe short stature, Short neck, Posterior rib fusion, Scoliosis,... ORPHA:1797
Spondylocostal Dysostosis 5
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Posterior rib fusion, Scoli... OMIM:122600
Dysosteosclerosis
High palate, Short sternum, Platyspondyly, Broad ribs, Sclerotic scapulae, Delayed closure of the... OMIM:224300
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... ORPHA:1988
Tarp Syndrome
High palate, Failure to thrive, Pectus excavatum, Short sternum, Cleft palate, Postaxial polydact... OMIM:311900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis... ORPHA:3268
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Short stature, Hypospadias, Camptodactyly of... ORPHA:2311
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hypoplasia of penis, Eunuchoid habitus, Short stature, Hemi... ORPHA:2234
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectus carina... ORPHA:64755
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Fused thoracic vertebrae, Small hand, Short stature, Syndactyly, Scolios... ORPHA:1445
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Short sternum, Bifid tongue, Bifid uvula, Postaxial hand polydactyly,... OMIM:258850
Tarp Syndrome
Hypoplasia of proximal radius, Failure to thrive, Widely patent fontanelles and sutures, Short st... ORPHA:2886
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, High palate, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypopla... OMIM:266910
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate sh... OMIM:156530
Marshall-Smith Syndrome
High palate, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip pads, Craniosyn... OMIM:602535
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... OMIM:609052
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Symphalangism affecting the phalanges of the hand, Hypogonadism, Pterygium, Int... ORPHA:2990
Scarf Syndrome
Short sternum, Bifid scrotum, Micropenis, Craniosynostosis, Abnormal form of the vertebral bodies... ORPHA:3134
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Short stature, Hemivertebrae, Posterior rib fusio... OMIM:608406
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Bifid uvula, Lobulated tongue, Postaxial hand polydactyly, Thora... ORPHA:2752
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Short 1st metacarpal, Metopic suture patent to nasal root, Broad ribs, Small scrot... OMIM:269150
Momo Syndrome
High palate, Short sternum, Short stature, Femoral bowing, Large for gestational age, Congenital ... ORPHA:2563
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Tapered finger, Pectus ca... OMIM:618371
Scarf Syndrome
Short sternum, Micropenis, Coronal craniosynostosis, Bifid scrotum, Barrel-shaped chest, Abnormal... OMIM:312830
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... OMIM:265000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Pectus excavatum, Short sternum, Female infertility, Primary amenorrhea, Irregular p... ORPHA:99413
Turner Syndrome
High palate, Pectus excavatum, Short sternum, Female infertility, Primary amenorrhea, Irregular p... ORPHA:881
Mosaic Monosomy X
High palate, Pectus excavatum, Short sternum, Female infertility, Primary amenorrhea, Irregular p... ORPHA:99228
Monosomy X
High palate, Pectus excavatum, Short sternum, Female infertility, Primary amenorrhea, Irregular p... ORPHA:99226
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... OMIM:122470
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Short stature OMIM:251250
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Cleft palate, Bifid scrotum, Micropenis, Micrognathia, Hypospadias, Small for gest... OMIM:257300
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Urethral atresia, Absent external genitalia, Thin ribs, Short ribs, Supernumerary ver... OMIM:271520
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular f... OMIM:618728
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Postnatal growth retardation, Micropenis, Short stature, Hypogon... OMIM:206900
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Short sternum, Abnormal external genitalia, Hypoplas... ORPHA:3404
Momo Syndrome
High palate, Obesity, Short sternum OMIM:157980
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... ORPHA:168549
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Donnai-Barrow Syndrome
Ventricular septal defect, Short sternum, Bicornuate uterus, Intestinal malrotation OMIM:222448
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Bicornuate uterus, Short stature, Short neck, Aplasia/hypoplasia o... ORPHA:2578
Brachydactyly, Type B1
Joint contracture of the hand, Micropenis, Hypoplastic sacrum, Delayed cranial suture closure, He... OMIM:113000
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Abnormality of the cervical spine, Male hypogonadism, Superior ri... OMIM:307500
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Short... OMIM:178110
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short sta... ORPHA:2522
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, M... ORPHA:1354
Metatropic Dysplasia
Narrow chest, Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodact... ORPHA:2635
Cerebrofaciothoracic Dysplasia
Bifid ribs, Rib fusion, Sprengel anomaly, Narrow chest, Vertebral segmentation defect, Short stat... ORPHA:1394
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Short stature, Brachydactyly, Pos... OMIM:617405
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Craniosynostosis, Hemivertebrae, Short neck, Large for gestational age, Shawl s... OMIM:213980
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Disproportionate short-limb short stature, Limitation of joint mobility, Short metacar... ORPHA:93351
Diastrophic Dysplasia
Abnormal clavicle morphology, Symphalangism affecting the phalanges of the hand, Ulnar deviation ... ORPHA:628
Three M Syndrome 1
Pectus excavatum, Short neck, Hypoplastic pelvis, Delayed skeletal maturation, Intrauterine growt... OMIM:273750
Stuve-Wiedemann Syndrome 2
Stillbirth, Short long bone, Scoliosis, Neonatal death, Death in adolescence, Camptodactyly, Bowi... OMIM:619751
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... ORPHA:239
Kbg Syndrome
Delayed skeletal maturation, Short stature, Cutaneous syndactyly, Short neck, Finger clinodactyly... ORPHA:2332
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Disproportionate short... ORPHA:485
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... ORPHA:1836
Kbg Syndrome
Delayed skeletal maturation, Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2... OMIM:148050
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus excavatum, Short sternum, Hepatomegaly, Cleft palate, 2-3 finger syndactyly, Pectus carina... OMIM:312870
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger... ORPHA:1436
3M Syndrome
Congenital hip dislocation, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, Rocker bottom... ORPHA:2616
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Coffin-Siris Syndrome 1
High palate, Short sternum, Prominent fingertip pads, Cleft palate, Ventricular septal defect, Sa... OMIM:135900
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Multinucleated giant ch... OMIM:108720
Pallister-Hall Syndrome
Hemivertebrae, Y-shaped metacarpals, Radial head subluxation, Intrauterine growth retardation, Ri... OMIM:146510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Short thorax, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Pontine Tegmental Cap Dysplasia
Failure to thrive, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Gorlin Syndrome
Arachnodactyly, Hypogonadotropic hypogonadism, Hemivertebrae, Brachydactyly, Scoliosis, Vertebral... ORPHA:377
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Brachydactyly, Proximal symphalangism, Tarsal synostosis, Hu... OMIM:610017
Verheij Syndrome
Growth delay, Short stature, Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clinodactyly... OMIM:615583
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Short stature, Cone-shap... ORPHA:474
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Failure to thrive, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Hand p... ORPHA:261197
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Sprengel anom... ORPHA:2911
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Hypoplastic labia majora, Sprengel... OMIM:134780
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Pectus excavatum, Short stature, Abnormal verteb... ORPHA:915
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Narrow chest, Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe synd... OMIM:263540
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized... ORPHA:2790
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Pectus excavatum, Disproportionate short-limb short stature, Decre... OMIM:259440
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Abnormal cervical curvature... OMIM:312150
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Platyspondyly, Ventricular septal defect, Intrauterine growth retardation, Thoracic... OMIM:616897
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Narrow chest, Metaphyseal cupping, Short ribs, Small for gestational age, Short stature, Iliac cr... OMIM:613320
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short stature, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx... OMIM:309620
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Sacral dimple, Elbow dislocation, Sho... ORPHA:1507
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Juberg-Hayward Syndrome
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Hypospadias, Scoliosis, Ra... ORPHA:2319
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Slender build, Irregular chondrocostal junctions, Short ribs, Meta... OMIM:187760
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Hypospadias, Osteopenia, Short ne... OMIM:611209
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Postnatal growth retardation, Small hand, Micrognathia, Acromicria, Short foo... ORPHA:254525
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... ORPHA:263508
Meier-Gorlin Syndrome 1
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Birth length less than 3rd percen... OMIM:224690
Wolf-Hirschhorn Syndrome
Radioulnar synostosis, Delayed skeletal maturation, Intrauterine growth retardation, Sacral dimpl... OMIM:194190
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, A... ORPHA:93267
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Abnormal cervical curvature... OMIM:253290
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... OMIM:615633
Aicardi Syndrome
Bifid ribs, Rib fusion, Precocious puberty, Butterfly vertebrae, Postnatal growth retardation, He... OMIM:304050
Wolf-Hirschhorn Syndrome
Delayed skeletal maturation, Intrauterine growth retardation, Sacral dimple, Rib fusion, Abnormal... ORPHA:280
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Disproportionate short-limb short stature, Pectus excavatum, Metaphyseal spur... OMIM:608728
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Long clavicles... OMIM:171480
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Robinow Syndrome
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, External genital hypoplasia, Cryptorc... ORPHA:97360
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short... ORPHA:1703
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Short stature, Abnormality of the glenoid foss... ORPHA:2097
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Aicardi Syndrome
Bifid ribs, Rib fusion, Precocious puberty, Butterfly vertebrae, Small hand, Scoliosis, Missing r... ORPHA:50
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, External genital hypoplasia, Absent thumb, Short stature, Hypoplasia o... OMIM:613390
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Short stature, Hemiverteb... ORPHA:2916
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Disproportionate short-limb short stature, Hypoplasia of penis, Decreased ca... ORPHA:2772
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fuse... OMIM:618469
Baller-Gerold Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Perineal fistula, Ri... OMIM:218600
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Infantile Sialic Acid Storage Disease
High palate, Metaphyseal irregularity, Failure to thrive, Hepatomegaly, Splenomegaly, Death in ch... OMIM:269920
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Partial fusion of t... OMIM:305620
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Hypoplasia of the uterus, Bicornuate uterus, Short stature, Abnormality of the ... OMIM:601076
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... OMIM:187600
Prune Belly Syndrome
Urogenital sinus anomaly, Vertebral segmentation defect, Failure to thrive, Pectus excavatum, Cry... ORPHA:2970
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis... ORPHA:313892
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening, Short stature ORPHA:1513
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Precocious puberty, Postnatal growth retardation, Cleft palate, Small for gestationa... ORPHA:96184
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Tapered finger, Large for gestational ag... ORPHA:544488
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Platyspondyly, ... OMIM:615777
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... OMIM:151200
3C Syndrome
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Hemivertebrae, Ven... ORPHA:7
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Neonatal short-limb short stature, Thin ribs, Short ribs, Disc... OMIM:151210
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Failure to thrive, Joint hypermobility, Short stature, Cone-shaped... OMIM:157800
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Beaded ribs, Disproportionate short-limb short stature, Thin ... OMIM:166210
1P36 Deletion Syndrome
11 pairs of ribs, Hypogonadism, Spinal canal stenosis, Rib fusion, Joint stiffness, Clinodactyly ... ORPHA:1606
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ly... OMIM:601376
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Micropenis, Short stature, Hypogonadotropic hypogonadism, Wormian bones, Tapered... OMIM:617159
Cantu Syndrome
Narrow chest, Bicuspid aortic valve, Broad first metatarsal, Congenital hypertrophy of left ventr... OMIM:239850
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:210720
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Thin ribs... ORPHA:93324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Cleft palate, Bifid scrotum, Dysmenorrhea, Microgna... ORPHA:397590
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Hip dy... ORPHA:530983
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Short neck, Platyspondyly, Cone-shaped capital femoral epiphysis, Small epiphy... OMIM:300232
Fibrochondrogenesis 1
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Thoracic... OMIM:228520
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short stature OMIM:108450
Zttk Syndrome
Rib fusion, Kyphosis, Failure to thrive, Flexion contracture, Craniosynostosis, Small hand, Hemiv... OMIM:617140
Holt-Oram Syndrome
Sprengel anomaly, Joint stiffness, Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abse... ORPHA:392
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Sho... ORPHA:3082
Catel-Manzke Syndrome
High palate, Clinodactyly of the 5th finger, Joint dislocation, Hyperphalangy of the 2nd finger, ... OMIM:616145
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hip bone morphology, Short stature,... ORPHA:3068
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Short stature, Abnormal rib morphology, Bowi... ORPHA:436
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Dis... OMIM:250420
Spondylocarpotarsal Synostosis Syndrome
Short neck, Pectus carinatum, Disproportionate short-trunk short stature, Block vertebrae, Delaye... OMIM:272460
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Short stature, Platysp... OMIM:300863
Lethal Congenital Contracture Syndrome 10
Narrow chest, High palate, Thoracic scoliosis, Narrow palate, Adducted thumb, Micrognathia, Overl... OMIM:617022
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Dela... ORPHA:2643
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Severe short... ORPHA:3242
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short stature,... OMIM:130720
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hi... OMIM:304120
Three M Syndrome 2
Lumbar hyperlordosis, Severe short stature, Thin ribs, Small for gestational age, Short stature, ... OMIM:612921
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Joint hypermobility, Multiple rib fractures, Small for gestati... OMIM:616229
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Short ribs, Barrel-shaped chest, Short tubular bones o... OMIM:200610
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Attrv30M Amyloidosis
Weight loss, Impotence, Cardiomyopathy, Cardiomegaly ORPHA:85447
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short stature, Short neck, Thoracolumbar sc... OMIM:616549
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short stature, ... ORPHA:582
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Short stature, Hypoplasia of the radius, ... OMIM:617604
Achondrogenesis Type 1B
Narrow chest, Severe short stature, Short neck, Abnormal rib morphology, Short thorax, Short foot... ORPHA:93298
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short stature, Short neck, Abnormal form of th... ORPHA:1486
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Joint swelling, Testicular atrophy, Infertility, Hepatomegaly, Splenomegaly, Hypogona... ORPHA:465508
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Short stature, Hypoplastic frontal sinuses, Microglossia, Grow... OMIM:253250
Basal Cell Nevus Syndrome
Bifid ribs, Sprengel anomaly, Short distal phalanx of the thumb, Abnormal sternum morphology, Ver... OMIM:109400
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Short stature, Abnormality of the urethra, Brachydactyly, Abnormal rib morpholo... ORPHA:2145
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of rib c... OMIM:612852
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... OMIM:235200
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Otopalatodigital Syndrome Type 2
Narrow chest, Carpal synostosis, Failure to thrive, Increased bone mineral density, Flared iliac ... ORPHA:90652
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Intrauterine growth retardation, Slender long bone, Abnormal pelvic gird... ORPHA:1506
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... ORPHA:3027
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Cryptorchidism, Small for gestational age,... OMIM:617796
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Disproportionate s... OMIM:200600
Pallister-Hall Syndrome
Hemivertebrae, Large for gestational age, Ambiguous genitalia, Radial head subluxation, Polydacty... ORPHA:672
Greenberg Dysplasia
Anterior rib punctate calcifications, Hepatomegaly, Barrel-shaped chest, Platyspondyly, 11 pairs ... OMIM:215140
Koolen-De Vries Syndrome
Intrauterine growth retardation, Kyphosis, Pectus excavatum, Spondylolisthesis, Slender finger, P... OMIM:610443
Cat-Eye Syndrome
Abnormal rib morphology, Intrauterine growth retardation, Hip dysplasia, Short stature ORPHA:195
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Cleft palate, Craniosynostosis, Metacarpophalangeal joint hyperextensibility, Platyspondyly, 11 p... OMIM:245600
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:2484
Mucolipidosis Ii Alpha/Beta
Pectus excavatum, Hepatomegaly, Craniosynostosis, Bullet-shaped phalanges of the hand, Enlarged k... OMIM:252500
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Short stat... OMIM:604922
Fanconi Anemia, Complementation Group I
Decreased body weight, Absent thumb, Short stature, Hypoplasia of the radius, Short 1st metacarpa... OMIM:609053
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Short stature, Platyspondyly, Scoliosis, Joint hypermobility, Bow... OMIM:615220
Meier-Gorlin Syndrome 3
Birth length less than 3rd percentile, Clitoral hypertrophy, Intrauterine growth retardation, Sma... OMIM:613803
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Small hand, Thin clavicles, Birth length less than 3rd percentile, Sle... OMIM:244460
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Abnormal external genitalia, Craniosynostosis, Femoral bowing, Primary amenorrhe... ORPHA:95699
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:2180
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Short stature, Arachnodactyly, Hypospa... ORPHA:96169
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Pectus excavatum, Rhizo-meso-acromelic limb shortening, Short neck, Platyspondyly, Small epiphyse... OMIM:611717
Campomelic Dysplasia
High palate, Poorly ossified cervical vertebrae, Cleft palate, Femoral bowing, Short 1st metacarp... OMIM:114290
Cole-Carpenter Syndrome 2
High palate, Kyphosis, Pectus excavatum, Microretrognathia, Thin ribs, Short stature, Coronal cra... OMIM:616294
Myhre Syndrome
Cone-shaped epiphysis, Short neck, Platyspondyly, Birth length less than 3rd percentile, Broad ri... OMIM:139210
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Ambiguous genitalia, Abnormal clavicle morphology, Hypospadias ORPHA:276422
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the radius, Uterus didelphys, Hemivertebrae, Short ne... ORPHA:958
Phaver Syndrome
Joint stiffness, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal for... ORPHA:2876
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Kyphosis, Disproportionate short-limb short stature, Neonatal... OMIM:259420
Mosaic Trisomy 20
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/s... ORPHA:1724
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Scoliosis, Cardiomegaly OMIM:618654
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Coat hanger sign of ribs, Ventricular septal defect, Large for gestati... ORPHA:254534
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Tho... OMIM:618019
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Fibrochondrogenesis
Narrow chest, Short ribs, Short stature, Camptodactyly of finger, Short neck, Brachydactyly, Abno... ORPHA:2021
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Thin ribs, Craniosynostosis, Short stature, Brachydactyly, Arthrogryposis ... OMIM:618265
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Cardiomegaly, Craniosynostosis ORPHA:88643
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Failure to thrive, Proximal symphalangism of hands, Progressive sclerosis of skull base,... OMIM:151050
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Short stature, Scoliosis, Wormian bones, Abnormal form of the vert... ORPHA:2050
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hype... OMIM:252920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in childhood, Death in infancy, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Cantú Syndrome
Short distal phalanx of finger, Narrow chest, Hypertrophic cardiomyopathy, Broad hallux phalanx, ... ORPHA:1517
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Clinodactyly of the 5th finger, Miscarriage, Hypospadias, Abnormality of the ankles, Pre... ORPHA:96179
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Failure to thrive,... ORPHA:289157
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Pectus carinatum, Rhi... ORPHA:175
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib cage morphology, Down-sloping shou... OMIM:227330
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Absent thumb, Arachnodactyly, Hemivertebrae, Sl... ORPHA:500150
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... OMIM:184460
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Reduced bone mineral density, Short stature, Camptodactyly of finge... ORPHA:1488
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, Growth delay, Clinodactyly of the 5th finger, Abnormal external genitalia... OMIM:607872
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... OMIM:271640
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short stature, Short humerus, Short neck, Short femoral neck, Scolio... OMIM:610319
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Fucosidosis
Lumbar hyperlordosis, Hepatomegaly, Macroglossia, Splenomegaly, Absent/hypoplastic paranasal sinu... OMIM:230000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Short neck, Broad hallux, Hypermobility of interphalangeal joint... ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Cleidocranial Dysplasia
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... ORPHA:1452
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Short stature, Hypoplastic pelvis, Cubitus valgus... OMIM:114620
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, ... ORPHA:3258
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... ORPHA:959
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Disproportionate short-limb short stature, Neonatal short-limb sh... OMIM:225500
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Short stature, Spina bifida occulta, Fus... OMIM:619227
Myhre Syndrome
Joint stiffness, Precocious puberty, Large iliac wing, External genital hypoplasia, Severe short ... ORPHA:2588
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Failure to thrive, Clinodactyly of... ORPHA:52
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... ORPHA:89936
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... ORPHA:3472
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Hepatomegaly, Prominent sternum, External genital... ORPHA:96334
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Trisomy 13
Narrow chest, Ectrodactyly, Kyphosis, Scoliosis, Abnormal morphology of female internal genitalia... ORPHA:3378
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... ORPHA:3035
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Cardiomegaly, Macroorchidism OMIM:300886
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Short stature, Short neck, Scoliosis, Abnormal form of the vertebr... ORPHA:1834
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Precocious puberty, Abnormal vertebral morphology ORPHA:280195
Apert Syndrome
Craniosynostosis, Cutaneous syndactyly, Pectus carinatum, Rhizomelic arm shortening, Sagittal cra... OMIM:101200
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Ambiguous genitalia, ... OMIM:613091
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Disproportionate short-limb short st... OMIM:610915
Cardiac Diverticulum
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Aortic valve ste... ORPHA:1686
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Ventricular septal d... OMIM:602782
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly OMIM:613576
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Pectus excavatum, Eunuchoid habitus, Thin ribs, Arachnodactyly, Thin metatarsal cort... ORPHA:2463
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Craniosynostosis, Short tibia, Short neck, Abnormal rib morpho... OMIM:251230
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Schwartz-Jampel Syndrome
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... ORPHA:800
Vacterl/Vater Association
Vertebral segmentation defect, Hypoplasia of penis, Finger syndactyly, Bifid scrotum, Hypospadias... ORPHA:887
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Uterus didelphys, Long thorax, Short long bone, Anal atresia, Narrow greater sciati... OMIM:617925
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Finger joint hy... ORPHA:363705
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Uterine prolapse, High palate, Pectus excavatum, Narrow palate, Kyp... OMIM:303600
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Uterus didelphys, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ... OMIM:200980
Histidinemia
Hyperactivity ORPHA:2157
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Campt... ORPHA:96061
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... ORPHA:860
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... OMIM:601005
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Aortic valve stenosis, Abnormal thumb morphology, Mitral valve prolapse, Protrudi... ORPHA:324410
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Short stature, Epiphyseal stippling, Cardiomyopathy, Cardiomegaly OMIM:256550
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal for... ORPHA:3109
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Clitoral hypoplasia, Abnormal epiphysis morphology, Clitoral hypertrophy, Delay... ORPHA:2554
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Shoulder dislocation... OMIM:607323
Holzgreve Syndrome
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol... ORPHA:2167
Cerebrocostomandibular Syndrome
High palate, Rib gap, Congenital hip dislocation, 11 pairs of ribs, Ventricular septal defect, An... OMIM:117650
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Limitation of joint mobility, Lateral clavicle hook, Short femur, U... OMIM:211350
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Failure to thrive, Thin ribs, Micropenis, Arachnodactyly, Contracture of the dis... ORPHA:83617
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Femoral bowing, Osteopenia, Biconcave vertebra... ORPHA:666
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Barrel-shaped chest... OMIM:276820
Antley-Bixler Syndrome
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodac... ORPHA:83
Noonan Syndrome 1
High palate, Cleft palate, Ventricular septal defect, Hypogonadism, Failure to thrive in infancy,... OMIM:163950
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Cone-shaped epiphysis... ORPHA:93317
Gaucher Disease, Perinatal Lethal
Decreased body weight, Hepatomegaly, Splenomegaly, Micrognathia, Hepatosplenomegaly, Neonatal dea... OMIM:608013
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Short toe, Clinodactyly of the 5th finger, Short 2nd finger, Hypop... ORPHA:373
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormal clavicle morphology, Ovarian cyst, Abnormality of the h... ORPHA:249
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Pectus excavatum, Severe short stature, Finger syndactyly, Arachnodactyly, Prominent me... ORPHA:2215
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiom... OMIM:212140
Cardiomyopathy, Familial Hypertrophic 27
Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, Endocardial fibroelastosis... OMIM:618052
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Bicornuate uterus, Hypospadias, Posterior rib fusion, Neonatal death OMIM:265380
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Short thumb, Abnormal rib morpholo... ORPHA:1120
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Short stature, Abnormality of the vertebral column, Scoliosis, Posta... OMIM:308205
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Rectovaginal fistula, Intrauterine gr... ORPHA:1780
Fraser Syndrome 1
Bicornuate uterus, Cleft palate, Micropenis, Hypospadias, Wide pubic symphysis, Aplasia/Hypoplasi... OMIM:219000
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Clinodactyly of the 5th finger, Hepatomegaly, Macroglossia, Short... OMIM:618143
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Finger syndactyly, Bifid scrotum, Popliteal pterygium, Scoliosis, Abnormal rib m... ORPHA:1300
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Micropenis, Postaxial hand polydactyly, Abnormal rib mor... ORPHA:2519
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Congenital hip dislocation,... OMIM:306955
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Growth delay, Flexion contracture of finger, Hepatomegaly, Macroglossia, Splen... OMIM:256040
Frontometaphyseal Dysplasia 2
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Finger cli... OMIM:617137
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Cardiomyopathy, Cardiomegaly OMIM:105210
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Cardiomegaly ORPHA:3137
Sandhoff Disease
Impotence, Hepatomegaly, Macroglossia, Hepatosplenomegaly, Death in childhood, Cardiomegaly OMIM:268800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Vater/Vacterl Association
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... OMIM:192350
Trisomy 1Q
Arachnodactyly, Preaxial hand polydactyly, Camptodactyly of finger, Abnormal rib morphology, Ambi... ORPHA:261344
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Abnormal rib morphology, Missing ribs... ORPHA:1647
Hurler Syndrome
Spinal canal stenosis, Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Shor... ORPHA:93473
Osteogenesis Imperfecta, Type Vii
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Multiple rib ... OMIM:610682
Yunis-Varon Syndrome
High palate, Absent thumb, Cutaneous syndactyly, Congenital hip dislocation, Down-sloping shoulde... OMIM:216340
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia, Short stature, Brachydactyly, Obesity, Cryptorch... OMIM:616368
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Tapered toe, Hepatomegaly, Narrow palate, Long fingers, Tapered finger, Enlarged kid... OMIM:608836
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... ORPHA:2769
Duane Retraction Syndrome
Hypoplasia of the radius, Abnormal vertebral segmentation and fusion, Absent radius, Short neck, ... ORPHA:233
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 fi... ORPHA:158687
Mogs-Cdg
Hydrocele testis, High palate, Thoracic scoliosis, Hepatomegaly, Atrial septal defect, External g... ORPHA:79330