Gene Summary

Name:
intraflagellar transport 172
Synonyms:
wim,  4930553F24Rik,  avc1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo development Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Ift172tm2b(EUCOMM)Hmgu HOM   E12.5 0.00
abnormal neural tube closure Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina blood vessel morphology Ift172tm2b(EUCOMM)Hmgu HET Early adult 1.52×10-10
abnormal pericardium morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal digit morphology Ift172tm2b(EUCOMM)Hmgu HET Early adult 3.94×10-05
edema Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic growth retardation Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal pharyngeal arch morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
preweaning lethality, complete penetrance Ift172tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
hemorrhage Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal heart morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo turning Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal allantois morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote Ambiguous
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
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)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote Not available
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote Not available
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue 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)
Hypothalamus 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)
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)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
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)
Thymus N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 50% (1 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 100% (2 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 100% (2 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 100% (2 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 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 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 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 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 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 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 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 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 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 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 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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 Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain Ambiguous
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver Ambiguous
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin Ambiguous
spinal cord Ambiguous
stomach Ambiguous
tail Ambiguous
tail somite group Ambiguous
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left fundus

16 Images

Adult LacZ

LacZ Images Wholemount

12 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Ift172 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 predicted to be associated to Ift172 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Esophageal a... OMIM:314390
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyse... ORPHA:166016
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Rhombencephalosynapsis
Polydactyly, Short nose, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Anteverted... ORPHA:59315
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Broad hallux, Dou... OMIM:217095
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... OMIM:217085
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Short ribs, Femoral bowing, Short long bone, Absent tibia, Intestinal malrotatio... OMIM:613091
Omodysplasia 2
Dislocated radial head, Bifid nasal tip, Broad femoral neck, Short humerus, Long philtrum, Bilate... OMIM:164745
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Renal cyst, Anal atresia, Dea... OMIM:613390
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Urinary incontinence, Genu valgum, Sandal gap, Short philtrum, Single trans... OMIM:617927
Absence Deformity Of Leg-Cataract Syndrome
Abnormal femur morphology, Abnormality of the lower limb, Anal atresia, Lower limb undergrowth, A... ORPHA:2310
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Orofaciodigital Syndrome Viii
Polydactyly, Bifid nasal tip, High palate, Cleft palate, Broad nasal tip, Syndactyly, Short tibia... OMIM:300484
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypoplasia, 2-3 to... OMIM:206920
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Single transverse palm... OMIM:201170
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... ORPHA:79106
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Absent thumb, Ap... OMIM:612447
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Femoral-Facial Syndrome
Abnormal fibula morphology, Orofacial cleft, Short nose, Long penis, Polycystic kidney dysplasia,... ORPHA:1988
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Esophageal atresia, Anteve... OMIM:619859
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Ventriculomegaly, Hypospadi... OMIM:175700
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Fanconi Anemia, Complementation Group B
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Death in infancy, Bilateral radial ... OMIM:300514
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, High palate, Short foot, Short 5th finger, Clinodactyly, Macrodontia,... OMIM:300577
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges... ORPHA:2256
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Limb undergrowth, Complete atr... OMIM:619142
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... ORPHA:85188
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Brachydactyly, Smooth philtrum,... OMIM:614526
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa... OMIM:118651
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... OMIM:616300
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Wide nose, Deformed humeral heads, Short metacarpal, Coxa va... ORPHA:2831
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Amelia, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotati... ORPHA:2538
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Short middle phalanx of the 5th finge... OMIM:614326
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Proximal placement of thumb, Esophageal atresia, Anteverted nares, Choanal atresia, S... OMIM:610536
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate... ORPHA:2632
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep... OMIM:249600
Apert Syndrome
Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Ventriculomegaly, Narrow palate, Hy... OMIM:101200
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accessory oral frenul... ORPHA:2756
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High... ORPHA:2863
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Feingold Syndrome Type 1
Abnormal heart morphology, Tricuspid atresia, 4-5 toe syndactyly, Multiple muscular ventricular s... ORPHA:391641
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Small thenar eminence, Short humerus, Absent thumb, Syndactyly... OMIM:607323
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Hypoplasia of penis, Short palm, Micrognathia, Short humerus, Long philtr... ORPHA:93328
Feingold Syndrome
Orofacial cleft, Clinodactyly of the 5th finger, Esophageal atresia, Anteverted nares, Deviation ... ORPHA:1305
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Stillbirth, Radial club hand, Hydrocephalus, Anal atresia, Renal hypoplasia,... OMIM:276950
3C Syndrome
Abnormal hip bone morphology, Hypoplasia of penis, Death in infancy, Intestinal malrotation, Pulm... ORPHA:7
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop... ORPHA:950
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Absent nasal bridge, Esophageal divert... OMIM:617925
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... ORPHA:1788
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Narrow mouth, Ventricular septal defect, Anal atresia, Atrial septal... ORPHA:3469
Apert Syndrome
Narrow palate, Convex nasal ridge, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Finger sy... ORPHA:87
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Esophageal atresia, Unilateral renal agenesis, Hydrocephalus, Anal atresia, T... OMIM:614083
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Polycystic kidney dysplasia, 2-3 toe syndactyl... OMIM:617866
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Even-Plus Syndrome
Short nose, Patent foramen ovale, Vesicoureteral reflux, High palate, Bifid nasal tip, Anal atres... OMIM:616854
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Atrial septal defect, Aplasia/Hypoplasia of... ORPHA:52056
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ... OMIM:147891
Acalvaria
Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida ORPHA:945
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Pfeiffer Syndrome Type 2
Short nose, Aqueductal stenosis, Deviation of the thumb, Short hallux, Finger syndactyly, Hydroce... ORPHA:93259
Phocomelia, Schinzel Type
Hypoplasia of penis, Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Hypoplas... ORPHA:2879
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia... ORPHA:2491
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Amelia, Cleft upper lip, Foot olig... OMIM:601357
17Q21.31 Microduplication Syndrome
Short nose, Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Anteverted nares, High pa... ORPHA:217340
15Q24 Microdeletion Syndrome
Wide nasal base, Proximal placement of thumb, Myelomeningocele, Abnormal heart morphology, Abnorm... ORPHA:94065
Leg, Absence Deformity Of, With Congenital Cataract
Abnormality of the lower limb, Duplication involving bones of the feet, Anal atresia OMIM:246000
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydrocephalus, Dandy-Walker malformation, Anal atresia, Missing ribs, Pulmonic steno... OMIM:220210
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormal nostril morphology, Abnormality of the wrist, Radial club hand, ... ORPHA:2878
W Syndrome
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductu... ORPHA:2804
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Pfeiffer Syndrome Type 3
Short nose, Aqueductal stenosis, Short hallux, Finger syndactyly, Vesicoureteral reflux, High pal... ORPHA:93260
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Tooth malposition, Distal ulnar hypoplasia, Micr... OMIM:277150
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Genu valgum, Hypospadias, Hypoplasia of penis, Anal atresia, Tetralog... ORPHA:1381
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Hypospadias, Flared metaphysis, Ventriculomegaly, Anteverted nares, Short ribs, Hyper... OMIM:616897
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Tracheoesophageal fistula, Syndactyly, Abnormal nasophar... OMIM:192350
Maternal Phenylketonuria
Deviated nasal septum, Esophageal atresia, Anteverted nares, High palate, Micrognathia, Bifid dis... ORPHA:2209
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Talipes... ORPHA:2557
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Short nose, Convex nasal r... ORPHA:3258
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Rudimentary fibula, Short phil... ORPHA:958
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly, Syndactyly OMIM:615938
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Wide nose, Oligodactyly, Narrow mouth, Missing ribs, Micromelia, Forearm und... OMIM:251230
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Intestinal malrotation, Arachnodactyly, Paranasal si... OMIM:300373
Eiken Syndrome
Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Trisomy 18
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Anencephaly, Abnormalit... ORPHA:3380
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Preaxial polydactyly, Unilateral renal agenesis, High palate, Bilateral tal... OMIM:618142
Radial Aplasia, X-Linked
Absent radius, Penile hypospadias, Hydrocephalus, Anal atresia OMIM:312190
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Thick nasal alae, Everted lower lip vermilion, Micrognathia, D... OMIM:615162
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypospadias, Esophageal atresia, Hypoplasia of penis, Hydrocephalus, Tracheoeso... ORPHA:77298
Laurin-Sandrow Syndrome
Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo... ORPHA:2378
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Thick nasal alae, Everted lower lip vermilion, Micrognathia, L... ORPHA:357175
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Epiphyseal stippling, Anteverted nares, High palate, Stippled calcification proximal ... OMIM:222765
Orofaciodigital Syndrome Iv
Short finger, Short tibia, High palate, Tongue nodules, Foot polydactyly, Postaxial polydactyly, ... OMIM:258860
Orofaciodigital Syndrome Ix
Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Clef... OMIM:258865
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Femoral bowing, Short long bone, Tibial bowing, Bowing of t... ORPHA:140
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox... OMIM:616716
Otopalatodigital Syndrome Type 2
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Myelomeningocele, Anodontia, Abnorm... ORPHA:90652
Distal Deletion 10P
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... ORPHA:1580
Fryns Syndrome
Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi... OMIM:229850
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Pulmonic... OMIM:212780
Pallister-Hall Syndrome
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect, Anteriorly placed anus, Esophageal atresia, Absent thumb OMIM:615272
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilater... OMIM:274000
Juberg-Hayward Syndrome
Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Hypospadias, Abnormal metaca... ORPHA:2319
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Anal atr... ORPHA:1352
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Aganglionic megacolon, Anal stenosis, Vesicoureteral reflux, Anal atresia, Shortening... OMIM:614749
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Codas Syndrome
Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal, Short humeru... OMIM:600373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Vacterl With Hydrocephalus
Hypoplasia of the radius, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Anal atresia, T... ORPHA:3412
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia OMIM:276821
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Bilateral cleft pala... OMIM:614900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Total anomalous pulmonary venous return, Pulmonic stenosis, ... OMIM:613854
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad... ORPHA:2249
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Abnormal heart morphology, Ventriculomegaly, Overlapping toe, Perimembranous ventricul... ORPHA:363444
Chromosome 3Pter-P25 Deletion Syndrome
Thin vermilion border, Atrioventricular canal defect, Gastroesophageal reflux, Low hanging colume... OMIM:613792
Feingold Syndrome Type 2
Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndac... ORPHA:391646
Distal Deletion 13Q
Abnormality of the hand, Anencephaly, Encephalocele, Abnormal metacarpal morphology, Aplasia/Hypo... ORPHA:1590
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallot, Ventricular septal def... OMIM:615779
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Cl... ORPHA:440354
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Holoprosencephaly, Tapered finger OMIM:300706
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Polyhydramnios, Holoprosencephaly, Hydranencephaly OMIM:617967
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Trunc... ORPHA:401935
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Feingold Syndrome 1
Gastrointestinal atresia, Tricuspid atresia, Esophageal atresia, Anteverted nares, 2-3 toe syndac... OMIM:164280
Kinsship Syndrome
Dislocated radial head, Death in infancy, Mesomelia, Wide mouth, Ventriculomegaly, Coxa valga, Hi... OMIM:619297
Atelosteogenesis Type Ii
Wide nasal base, Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower li... ORPHA:56304
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Ventriculomegaly, Bilateral cleft lip, Fi... OMIM:612651
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of ... OMIM:614078
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous... OMIM:613751
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, High palate, Split hand, ... ORPHA:989
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Flat ace... OMIM:211350
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial ef... OMIM:613885
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Orofaciodigital Syndrome X
Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Esophageal stricture, Carious teeth, Mitten deformity, Urethral st... ORPHA:79409
Cartilage-Hair Hypoplasia
Limited elbow extension, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Metaphyseal cu... OMIM:250250
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Choanal atresia, Anal atresia, Cleft upper lip, Hypodontia, Cu... OMIM:119580
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Unilateral renal agenesis, Esophageal atresia, Wide nose, Spi... OMIM:619227
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Polyhydramnios, Encephalocele, Hydrocephalus, Micromelia, Increas... ORPHA:93274
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Cocaine Embryofetopathy
Short distal phalanx of finger, Intestinal atresia, Encephalocele ORPHA:1911
Schisis Association
Anencephaly, Encephalocele, Tracheoesophageal fistula, Anal atresia, Micromelia, Spina bifida, Cl... ORPHA:63862
Atelosteogenesis Type I
Abnormal fibula morphology, Rhizomelia, Laryngotracheal stenosis, Short long bone, Micrognathia, ... ORPHA:1190
Pallister-Hall-Like Syndrome
Short nose, Occipital encephalocele, Hydrocephalus, Short ribs, Postaxial hand polydactyly, Micro... OMIM:241800
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Long philtrum, Ventriculomegaly, Hip dislocation, Dandy-Walker malformation, Abnorma... OMIM:300968
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Conical tooth, Midgut... OMIM:263750
Fryns Syndrome
Intestinal malrotation, Wide mouth, Long philtrum, Short distal phalanx of finger, Ventriculomega... ORPHA:2059
Van Esch-O'Driscoll Syndrome
Short nose, Pulmonary valve atresia, Clinodactyly of the 5th finger, Esophageal atresia, Spina bi... OMIM:301030
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Unilateral renal agenesis, Meningocele, Hallux valgus, High palate, Ventri... OMIM:620511
14Q11.2 Microdeletion Syndrome
Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ... ORPHA:261120
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Orofacial cleft, Lower limb undergrowth, Forearm undergrowth OMIM:218650
Acromicric Dysplasia
Long philtrum, Short nose, Abnormal femur morphology, Thick lower lip vermilion, Anteverted nares... ORPHA:969
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Esophageal atresia, Hydrocephalus, Pelvic kidney, Tracheoesophageal fistula, Apla... OMIM:227646
Trisomy 1Q
Long foot, Congenital megaureter, Wide nose, Hydrocephalus, Narrow mouth, Anal atresia, Arachnoda... ORPHA:261344
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac... OMIM:134780
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Acrocardiofacial Syndrome
Atrial septal defect, Hypospadias, Abnormal metacarpal morphology, Hypoplasia of penis, Finger sy... ORPHA:2008
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Methimazole Embryofetopathy
Esophageal atresia, Hypospadias, Choanal atresia, Tracheoesophageal fistula, Ventricular septal d... ORPHA:1923
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Baller-Gerold Syndrome
Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the... ORPHA:1225
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly OMIM:615937
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasi... ORPHA:1908
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Short ribs, Urethrovaginal fistula, Long philtrum, Ventriculomegaly, Dandy-W... ORPHA:93271
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Penoscrotal transp... OMIM:619148
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Short philtrum, Wide nose, Patent ... OMIM:607143
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Short nose, Anteverted nares, Abnormality of the ureter, Deviation of... ORPHA:1450
Boomerang Dysplasia
Fibular aplasia, Hypoplastic nasal septum, Hypoplastic iliac body, Neonatal death, Absent radius,... OMIM:112310
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Hypospadias ORPHA:141333
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi... ORPHA:2476
17P13.3 Microduplication Syndrome
Short nose, Clinodactyly of the 5th finger, Wide nose, Hypoplasia of penis, Narrow mouth, High pa... ORPHA:217385
Mirage Syndrome
Rocker bottom foot, Radial club hand, Hypospadias, Gastroesophageal reflux, Hydrocephalus, Microp... OMIM:617053
Immunodeficiency 12
Cheilitis, Recurrent aphthous stomatitis, Clubbing, Death in adolescence, Esophageal stricture OMIM:615468
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Wide nasal bridge, Anal atresia OMIM:309620
Distal Deletion 12Q
Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Long philtrum, Overla... ORPHA:96149
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Urethral diverticulum, Anal atresia, Cleft palate, Displacement of the urethr... ORPHA:95706
Distal Duplication 15Q
High palate, Anal atresia, Camptodactyly of finger, Arachnodactyly, Micrognathia, Downturned corn... ORPHA:1707
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal fibula morphology, Abnormal palate morphology, Abnormal femur morphology,... ORPHA:2063
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Dental crowding, Short ribs, Femoral bowing, Everted lower l... OMIM:600920
Omodysplasia 1
Limited knee extension, Short humerus, Umbilical hernia, Long philtrum, Fibular hypoplasia, Rhizo... OMIM:258315
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp... ORPHA:246
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Short nose, Clinodactyly of the 5th finger... ORPHA:2370
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Atrioventricular canal defect, Short first metatarsal, Ulnar bowing, Epip... OMIM:619135
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Distal Deletion 10Q
Sandal gap, Prominent fingertip pads, Lateral ventricle dilatation, Clinodactyly, Hip dislocation... ORPHA:96148
Catel-Manzke Syndrome
Low insertion of columella, Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Bi... OMIM:616145
Stromme Syndrome
Short columella, Preaxial polydactyly, Stillbirth, Hydrocephalus, Intestinal malrotation, Microgn... OMIM:243605
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Short nose, Hydroureter, Hypercalciuria, Anteverted nares, Restrictive ca... OMIM:615398
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypopla... OMIM:617926
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Neonatal death, Oral mucosal blisters, Congenital pyloric atresia OMIM:619817
Renpenning Syndrome
Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Shor... ORPHA:3242
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Vacterl/Vater Association
Occipital encephalocele, Ectopic kidney, Anorectal anomaly, Hypoplasia of penis, Hypospadias, Fin... ORPHA:887
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Short nose, Hypospadias,... ORPHA:96097
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Short middle phalanx of finger, Anal atresia ORPHA:1436
Cat-Eye Syndrome (Type I)
Micrognathia, Abnormal heart morphology, Anal atresia DECIPHER:42
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Hydrocephalus, Broad toe, Dental crowding, Da... OMIM:612582
Hadziselimovic Syndrome
Thick lower lip vermilion, Anteverted nares, Ventricular hypertrophy, High palate, Anal atresia, ... OMIM:612946
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius ORPHA:2117
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectovaginal fistula, Hydrocephalus, Perineal fistula, Oligodactyly, Ec... ORPHA:3016
Acrocallosal Syndrome
Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv... OMIM:200990
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Acro-Renal-Ocular Syndrome
Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Crossed fused renal ect... ORPHA:959
Mosaic Trisomy 14
Bilateral single transverse palmar creases, Hypospadias, Hypoplasia of penis, Anteverted nares, E... ORPHA:1703
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Ectopic anus, Anal atresia, Spina bifida, Cleft palate, Ventricular... ORPHA:2345
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Acromicric Dysplasia
Thick lower lip vermilion, Anteverted nares, Short long bone, Narrow mouth, Short metacarpal, Sho... OMIM:102370
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Atrial septal defect, Short greater sciatic notch, Hydrocephalus,... ORPHA:1860
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa... OMIM:142900
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,... ORPHA:3138
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Glandular hypospadias, ... ORPHA:2473
Emanuel Syndrome
Dental crowding, Intestinal malrotation, Pulmonic stenosis, Aortic valve stenosis, Recurrent sinu... OMIM:609029
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Hydrocephalus, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ... ORPHA:380
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Finger syndactyly, Bilateral cleft palate, Anal atresia, Carious teeth ORPHA:1997
Ring Chromosome 21 Syndrome
Narrow palm, Abnormal heart morphology, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand ORPHA:1445
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Abnormality of the lower limb, Abnormality of the knee, Palmoplantar hyperkeratosis, Abnormality ... ORPHA:158673
Pseudotrisomy 13 Syndrome
Tricuspid atresia, 11 pairs of ribs, Encephalocele, Dextrocardia, Hydrocephalus, 2-3 toe syndacty... OMIM:264480
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Dental crowding, Wide mouth, Malrotation of colon, Umbilical hern... ORPHA:93932
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ... OMIM:208500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anal fissure, Gastroesophageal reflux, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia... ORPHA:89842
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Single transverse palmar crease, Delayed os... OMIM:617425
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umb... OMIM:304120
Robinow Syndrome, Autosomal Recessive 2
Short nose, Bicuspid aortic valve, Sandal gap, Cleft soft palate, Triangular mouth, Anteverted na... OMIM:618529
Cat Eye Syndrome
Meckel diverticulum, Intestinal malrotation, Pulmonic stenosis, Umbilical hernia, Absent radius, ... OMIM:115470
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Short humerus, ... OMIM:218330
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, High palate, Abnormality of the humeru... ORPHA:3098
Otoonychoperoneal Syndrome
Ankle flexion contracture, Hypospadias, Hip contracture, Knee flexion contracture, Aplasia/Hypopl... OMIM:259780
Sweeney-Cox Syndrome
Short distal phalanx of finger, Short philtrum, Patent foramen ovale, Choanal atresia, Broad nasa... OMIM:617746
Fanconi Anemia, Complementation Group R
Radial dysplasia, Hydrocephalus, Pelvic kidney, Anal atresia, Absent thumb, Agenesis of permanent... OMIM:617244
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys... OMIM:263520
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Agenesis of corp... OMIM:164180
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Median cleft p... OMIM:184705
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Opitz-Kaveggia Syndrome
Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br... OMIM:305450
Prune Belly Syndrome
Atrial septal defect, Hydroureter, Renal insufficiency, Vesicoureteral reflux, Urogenital sinus a... ORPHA:2970
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Cat-Eye Syndrome
Hydronephrosis, Anal atresia, Hip dysplasia ORPHA:195
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Cerebrocostomandibular Syndrome
Ectopic kidney, Glossoptosis, Short humerus, Long philtrum, 10 pairs of ribs, Calcaneal epiphysea... OMIM:117650
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi... ORPHA:1278
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Dysphagia, Palmoplantar keratoderma, Es... OMIM:616029
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Open bite, Microdontia, Tooth agenesis, Depressed nasal ... ORPHA:1248
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Hi... ORPHA:314795
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o... ORPHA:2839
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Widely spaced teeth, Hypospadias, Bowed humerus, Short lingual frenulum, Short long bone, Microdo... OMIM:619479
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Wide nasal base, Femoral bowing, Short long bone, Clubbing, Tibial bo... OMIM:601559
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion ORPHA:2015
Kindler Epidermolysis Bullosa
Neoplasm of the urethra, Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnor... ORPHA:2908
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Hydroceph... ORPHA:1834
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Abnormal esophagus morphology, Spontaneous esophageal perforation, Enamel hypoplasi... OMIM:226600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ... OMIM:210710
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Adducted thumb ORPHA:2182
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short... OMIM:181450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
1Q21.1 Microduplication Syndrome
Hypospadias, Gastroesophageal reflux, Hydrocephalus, Tetralogy of Fallot, Hip dysplasia, Talipes ... ORPHA:250994
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Dysphagia, Long philtrum,... ORPHA:96170
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Ventriculomegaly, Anteverted ... OMIM:614701
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Tr... OMIM:619879
Orofaciodigital Syndrome Xi
Gastroesophageal reflux, Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate,... OMIM:612913
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin vermilion border, Long nose, Short nose, Clinodactyly of the 5th finger, Hypospadias, Sandal... OMIM:617602
Triploidy
Polyhydramnios, Meningocele, Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia affecting the e... ORPHA:3376
Acrorenal-Mandibular Syndrome
Narrow palate, Hypoplasia of the radius, Hypoplasia of the ulna, Polycystic kidney dysplasia, Elb... OMIM:200980
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Ureteral stenosis, Short humer... OMIM:309350
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, 2-3 toe syndactyly,... OMIM:613443
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c... OMIM:618395
Fanconi Anemia
Abnormal femur morphology, Meckel diverticulum, Abnormality of the upper limb, Tracheoesophageal ... ORPHA:84
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Abnormal palate morphology, Short nose, Talipes, Gastroesophageal reflux, Narrow mouth, Death in ... ORPHA:1495
Lowe-Kohn-Cohen Syndrome
Anal atresia, Nephropathy, Anorectal anomaly ORPHA:2408
Weiss-Kruszka Syndrome
Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar... ORPHA:502430
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Patellar hypoplasia, Absent tibia, Median cleft palate, Bilateral talipes equinovarus... OMIM:119800
Polysyndactyly With Cardiac Malformation
Stillbirth, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Atrial septa... OMIM:263630
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv... OMIM:265380
Orofaciodigital Syndrome Ii
Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, H... OMIM:252100
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Bifid nasal tip, Intestinal malrotation, Flexion contr... ORPHA:2712
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Bifid uvula, Absent thumb, Short humer... OMIM:218600
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Slc35A2-Cdg
Transient nephrotic syndrome, Abnormality of the hand, Hip subluxation, Abnormal long bone morpho... ORPHA:356961
Atrial Septal Defect 2