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 pericardium morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo turning Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal neural tube closure Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo development Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
preweaning lethality, complete penetrance Ift172tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal pharyngeal arch morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Ift172tm2b(EUCOMM)Hmgu HOM   E12.5 0.00
abnormal allantois morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal heart morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
hemorrhage Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina blood vessel morphology Ift172tm2b(EUCOMM)Hmgu HET Early adult 2.60×10-10
abnormal digit morphology Ift172tm2b(EUCOMM)Hmgu HET Early adult 4.60×10-05
embryonic growth retardation Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
edema Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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 1.75% (1 of 57)
axial skeleton 0.0%
brain 1.36% (6 of 440)
central nervous system ganglion 0.0%
cranium 1.72% (1 of 58)
dorsal root ganglion 1.75% (1 of 57)
ear 0.0%
embryo 0.22% (1 of 458)
external ear 1.45% (1 of 69)
eye 0.22% (1 of 457)
femur pre-cartilage condensation 2.04% (1 of 49)
footplate 0.21% (1 of 466)
forearm 0.37% (1 of 268)
forebrain 0.22% (1 of 455)
forelimb 0.22% (1 of 452)
fronto-nasal process 1.82% (1 of 55)
gut 1.85% (1 of 54)
handplate 0.22% (1 of 460)
head 0.87% (4 of 461)
head mesenchyme 1.85% (1 of 54)
heart 0.22% (1 of 455)
heart ventricle 1.85% (1 of 54)
hindbrain 1.08% (5 of 463)
hindlimb 0.0%
humerus pre-cartilage condensation 1.79% (1 of 56)
inner ear 1.67% (1 of 60)
intestine 0.0%
liver 0.22% (1 of 454)
lower leg 0.37% (1 of 270)
lung 0.22% (1 of 453)
mandibular process 0.0%
maxillary process 0.22% (1 of 445)
mesonephros of female 0.0%
mesonephros of male 1.92% (1 of 52)
metanephros 1.96% (1 of 51)
midbrain 0.22% (1 of 458)
nasal septum 1.92% (1 of 52)
nose 1.45% (1 of 69)
notochord 1.85% (1 of 54)
oral cavity 0.22% (1 of 451)
outflow tract 1.85% (1 of 54)
pancreas 2.13% (1 of 47)
pericardium 2.08% (1 of 48)
pharynx 1.89% (1 of 53)
radius-ulna pre cartilage condensation 1.92% (1 of 52)
rib pre-cartilage condensation 2.17% (1 of 46)
skeleton 1.43% (1 of 70)
skin 0.22% (1 of 458)
spinal cord 1.59% (1 of 63)
stomach 2% (1 of 50)
tail 0.22% (1 of 465)
tail somite group 0.22% (1 of 455)
thoracic vertebral cartilage condensation 2.08% (1 of 48)
tongue 2.04% (1 of 49)
trachea 0.0%
trunk mesenchyme 1.89% (1 of 53)
umbilical artery embryonic part 1.92% (1 of 52)
umbilical vein embryonic part 1.92% (1 of 52)
upper arm 0.37% (1 of 273)
upper leg 0.0%
urinary system 1.96% (1 of 51)
vibrissa 1.52% (1 of 66)

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

Adult LacZ

LacZ Images Wholemount

12 Images

Eye Morphology

VIP of right fundus

16 Images

Embryo LacZ

LacZ images wholemount

4 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of left eye

16 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
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Short humerus, Hand polydactyly, Esophageal atresia, Absent radius, Enlarged kidn... OMIM:314390
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Deat... OMIM:200700
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplastic left heart, Short thumb, Hypoplasia of the radius, Short tibia, Nar... ORPHA:1972
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Broad nasal tip, Flattened epiphysis, Rhizomelia, Dislocated radial head, K... ORPHA:166016
Faciocardiomelic Dysplasia, Lethal
Single transverse palmar crease, Short thumb, Hypoplasia of the radius, Radial deviation of the h... OMIM:227270
Rhombencephalosynapsis
Esophageal atresia, Anal atresia, Polydactyly, Hydrocephalus, Short nose, Finger syndactyly, Agan... ORPHA:59315
Conotruncal Heart Malformations
Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ventricle, Bro... OMIM:217095
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Increased carrying angle, Short tibia, Dorsal subluxation of ulna, Sh... OMIM:127300
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Posta... OMIM:217085
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Syndactyly, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Acromesomelic Dysplasia 2C
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... OMIM:201250
Osebold-Remondini Syndrome
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Short tibia, Broad toe... OMIM:112910
Fanconi Anemia, Complementation Group O
Hydronephrosis, Anal atresia, Small thenar eminence, Miscarriage, Stage 5 chronic kidney disease,... OMIM:613390
Omodysplasia 2
Cleft palate, Hypoplastic distal humeri, Short 1st metacarpal, Micropenis, Bifid nasal tip, Broad... OMIM:164745
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Enlarged kidney, Cleft palate, Bifid tongue, Cleft upper lip, Cone-s... OMIM:613091
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Diastema, Prominent nasal bridge, Preaxial polydactyly, Postaxial... OMIM:617927
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia, Abnormality of the lower limb, Abnormal epiphysis morphology, Lower limb undergrowt... ORPHA:2310
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Coffin-Siris Syndrome 11
Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Small hand, Bulbous no... OMIM:618779
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Orofaciodigital Syndrome Viii
High palate, Broad nasal tip, Polydactyly, Bifid nasal tip, Short tibia, Syndactyly, Cleft palate... OMIM:300484
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Microphthalmia With Limb Anomalies
Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr... OMIM:206920
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Acrofacial Dysostosis Syndrome Of Rodriguez
Single transverse palmar crease, Oligodactyly, High palate, Overlapping toe, Short tibia, Microgn... OMIM:201170
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Madelung deformi... ORPHA:240
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Micropenis, Short tibia, Short femur, Narrow mouth, Thin vermilion border, Hypoplasia of the ulna... OMIM:612447
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormality of fibula morphology, Hip dysplasia, Short nose, Microgn... ORPHA:1988
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Flat... ORPHA:1856
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Death in infancy, Micro... ORPHA:2098
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Missing ribs, Bilateral choanal atresia, Choanal atresia, Short nose, Neonata... OMIM:619859
Intellectual Developmental Disorder, X-Linked 91
High palate, Short nose, Macrodontia, Short 5th finger, Cubitus valgus, Small hand, Clinodactyly,... OMIM:300577
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Abnormal heart morphology, Toe syndactyly,... ORPHA:93323
Fanconi Anemia, Complementation Group B
Esophageal atresia, Micropenis, Duodenal atresia, Tracheoesophageal fistula, Ventricular septal d... OMIM:300514
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Aplasia/Hypoplasia of t... ORPHA:2256
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Cleft palate, Bifid tongue, Hypoplast... OMIM:616300
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Atrial septal defect, Horsesh... ORPHA:2538
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Broad toe, Preaxial foot poly... OMIM:186350
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Atrial septal defect, Broad thumb, Smooth philtrum, Micrognathia, Cleft soft ... OMIM:614526
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Madelung def... OMIM:249700
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Micromelia, Humeroradial synostosis, ... ORPHA:2019
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... OMIM:619598
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Rhizomelic Dysplasia, Patterson-Lowry Type
Deviation of finger, Short humerus, Rhizomelia, Short nose, Short metacarpal, Deformed humeral he... ORPHA:2831
Microphthalmia With Limb Anomalies
Hip dislocation, Horseshoe kidney, Short tibia, Abnormality of the upper limb, Cleft palate, Toe ... ORPHA:1106
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect OMIM:614474
Feingold Syndrome 2
Short thumb, Ventricular septal defect, Short middle phalanx of the 5th finger, Intestinal atresi... OMIM:614326
Brachydactyly Type A1
Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of finger, Sh... ORPHA:93388
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... OMIM:118651
Ivic Syndrome
Short thumb, Tetralogy of Fallot, Carpal synostosis, Short 1st metacarpal, Hypoplasia of the radi... OMIM:147750
Langer Mesomelic Dysplasia
High palate, Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic li... ORPHA:2632
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Short Stature-Wormian Bones-Dextrocardia Syndrome
Depressed nasal tip, Camptodactyly of finger, Anal atresia, High palate, Dextrocardia, Tooth agen... ORPHA:2863
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Broad long bones, Cleft palate, Narrow mouth, Patent ... OMIM:228520
Feingold Syndrome Type 1
Short thumb, Horseshoe kidney, Abnormal heart morphology, Toe syndactyly, Tricuspid stenosis, Hyd... ORPHA:391641
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Absent proximal radial epiphyses, Narrow nose, Pes p... OMIM:249600
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Proximal placement of thumb, Ventricular septal defect, Atrial septal defect,... OMIM:610536
Apert Syndrome
Bifid uvula, Ventricular septal defect, Choanal atresia, Cleft palate, Ventriculomegaly, Broad th... OMIM:101200
Orofaciodigital Syndrome Type 10
Oligodactyly, Metatarsal synostosis, Polysyndactyly of hallux, Short tibia, Short toe, Fibular ap... ORPHA:2756
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect OMIM:235750
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Fibular hypoplasia, Hypoplasia... ORPHA:2634
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... OMIM:619142
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Cleft palate, Knee dislocation, Fibular aplasia, Multinuc... OMIM:108720
Seckel Syndrome 1
Hip dislocation, Selective tooth agenesis, Cleft palate, Single transverse palmar crease, 11 pair... OMIM:210600
Xk Aprosencephaly Syndrome
Anal atresia, Atrial septal defect, Ventricular septal defect, Abnormal morphology of the radius,... ORPHA:3469
Duane-Radial Ray Syndrome
Short thumb, Ventricular septal defect, Horseshoe kidney, Aplasia of metacarpal bones, Atrial sep... OMIM:607323
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Short nose, Patellar dislocation, Hypoplasia of penis, Long philtrum, ... ORPHA:93328
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Short tibia, Complete atrioventricular canal defect, Cleft palate, Absent na... OMIM:617925
Vacterl Association With Hydrocephalus
Anal atresia, Radial club hand, Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology, St... OMIM:276950
Feingold Syndrome
Esophageal atresia, Hallux valgus, Duodenal atresia, Deviation of the 2nd finger, Brachydactyly, ... ORPHA:1305
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Horseshoe kidney, Atrial septal defect, Short metat... OMIM:609945
3C Syndrome
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr... ORPHA:7
Acrofacial Dysostosis, Rodríguez Type
Prominent nasal bridge, Arrhinencephaly, Aqueductal stenosis, Finger syndactyly, Abnormal pelvic ... ORPHA:1788
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Leg, Absence Deformity Of, With Congenital Cataract
Abnormality of the lower limb, Anal atresia, Duplication involving bones of the feet OMIM:246000
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Single transverse palmar crease, Polycystic kidney dysplasia, Preaxial polydactyly, Postaxial pol... OMIM:617866
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Coxa valga, Mesomelia, Ulnar deviated club hands, Radioulnar dislocation, Radi... OMIM:164900
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Patellar disl... OMIM:147891
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Hypoplastic nas... OMIM:186500
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, Ho... OMIM:609637
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Rhizomelia, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara,... OMIM:601438
Apert Syndrome
Esophageal atresia, Bifid uvula, Hydrocephalus, Finger syndactyly, Choanal atresia, Aplasia/Hypop... ORPHA:87
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Even-Plus Syndrome
Anal atresia, High palate, Atrial septal defect, Bifid nasal tip, Short nose, Dysplasia of the fe... OMIM:616854
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short 5th finger,... ORPHA:52056
Fanconi Anemia, Complementation Group L
Depressed nasal tip, Esophageal atresia, Anal atresia, Absent radius, Micropenis, Bilateral talip... OMIM:614083
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Abnormal heart morphology, Narrow mouth, Intestinal atresia, Smooth ... ORPHA:94065
Endove Syndrome, Limb-Only Type
Hydronephrosis, 3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate short... OMIM:619217
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Hip dislocation, Short thumb, Proximal placement of thumb, Bifid uvul... OMIM:268305
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defec... OMIM:220210
Phocomelia, Schinzel Type
Cleft palate, Micromelia, Fibular aplasia, Radial bowing, Hypoplasia of the radius, Foot oligodac... ORPHA:2879
Acalvaria
Postaxial hand polydactyly, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Hypoplasia of penis, Micromeli... ORPHA:2491
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Horseshoe kidney, Tetralogy of Fallot, Ab... ORPHA:3320
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Acrodysostosis
Open mouth, Depressed nasal ridge, Abnormal morphology of ulna, Short metatarsal, Short nose, Sho... ORPHA:950
Pfeiffer Syndrome Type 2
Anal atresia, High palate, Depressed nasal bridge, Hydrocephalus, Hallux varus, Aqueductal stenos... ORPHA:93259
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Elbow dislocation, Absent radius, Genu varum, Phocome... OMIM:171480
17Q21.31 Microduplication Syndrome
High palate, Abnormality of the dentition, Short nose, Anteverted nares, Toe syndactyly, Microgna... ORPHA:217340
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Abnormal palate morphology, Tetralogy of Fallot, Hypoplasia of penis, Genu valgum, ... ORPHA:1381
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Short humerus, Asymmetric radial dysplasia, Radial club hand, Abnormal nasal morphology, Deep phi... ORPHA:2878
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... OMIM:228900
W Syndrome
Camptodactyly, Pes planus, Broad uvula, Broad nasal tip, Agenesis of maxillary central incisor, P... ORPHA:2804
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Hip dislocation, Tracheoesophageal fistula, Finger... ORPHA:958
Van Bogaert-Hozay Syndrome
Tooth malposition, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hy... OMIM:277150
Maternal Phenylketonuria
Esophageal atresia, High palate, Hypoplastic left heart, Ventricular septal defect, Tetralogy of ... ORPHA:2209
Radial Aplasia, X-Linked
Anal atresia, Absent radius, Penile hypospadias, Hydrocephalus OMIM:312190
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Short fe... OMIM:601357
Cenani-Lenz Syndrome
Oligodactyly, Foot oligodactyly, Hip dislocation, Short thumb, Short nose, Finger syndactyly, Syn... ORPHA:3258
Mietens Syndrome
Elbow ankylosis, Abnormality of fibula morphology, Hip dislocation, Hip dysplasia, Avascular necr... ORPHA:2557
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Postaxial hand polydactyly, Syndactyly, Hydrocephalus OMIM:615938
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Fibular aplasia, Mult... OMIM:300373
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Fractured radius, Micropenis, Decreased fibular diameter, Limb undergrowth, Ventr... OMIM:616897
Distal Deletion 13Q
Encephalocele, Holoprosencephaly, Abnormality of the hand, Abnormal metacarpal morphology, Anence... ORPHA:1590
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Polycystic kidney dysplasia, Abnormal long bone morphology, Polydactyly, ... ORPHA:1505
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis, High palate, Proximal radial head dislocation, Proximal placement of thumb, Solit... OMIM:602418
Trisomy 18
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Choanal atresia, Abnorm... ORPHA:3380
Intellectual Developmental Disorder, Autosomal Recessive 35
Wide nose, Everted lower lip vermilion, Downturned corners of mouth, Thick nasal alae, Long philt... OMIM:615162
Pfeiffer Syndrome Type 3
Hydronephrosis, Anal atresia, High palate, Depressed nasal bridge, Horseshoe kidney, Hallux varus... ORPHA:93260
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Aqueductal stenosis, Short tibia,... OMIM:251230
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Holoprosencephaly, Hydrocephalus, Hydranencephaly OMIM:617967
Campomelic Dysplasia
Hydronephrosis, Hip dislocation, Hypoplastic inferior ilia, Bowing of the long bones, Micrognathi... ORPHA:140
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Hypoplasia of pe... ORPHA:77298
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Micropenis, Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping toe, Po... OMIM:618142
Orofaciodigital Syndrome Iv
Short finger, Lobulated tongue, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia... OMIM:258860
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Wide nose, Everted lower lip vermilion, Thick nasal alae, Long philtrum, Hypoplasia of the ulna, ... ORPHA:357175
Vater/Vacterl Association
Short thumb, Ventricular septal defect, Tetralogy of Fallot, Ureteropelvic junction obstruction, ... OMIM:192350
Juberg-Hayward Syndrome
Anteriorly placed anus, Short thumb, Horseshoe kidney, Abnormal finger morphology, Abnormality of... ORPHA:2319
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Toe syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, T... ORPHA:2378
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... ORPHA:75508
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, High palate, Broad nasal tip, Abnormality of the dentition, Bifi... OMIM:258865
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Oligodontia, Short thumb, Cleft palate, Carpal synostosis, Flared iliac ... ORPHA:90652
Congenital Heart Defects, Multiple Types, 4
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal de... OMIM:615779
Distal Deletion 10P
Anal atresia, Abnormality of the elbow, Hypoplasia of penis, Cleft palate, Ectopic anus, Non-midl... ORPHA:1580
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Broad nasal tip, Atrial septal defect, Short nose, Shortening of all distal phalang... OMIM:614749
Fryns Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Ventricular septal defe... OMIM:229850
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Absent radius, Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Aplasia of ... ORPHA:1352
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, ... OMIM:274000
Holt-Oram Syndrome
Aplasia of the ulna, Short humerus, Limited elbow extension, Aplasia of the pectoralis major musc... OMIM:142900
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis, Ectopic kidney, Syndactyly, Enamel hypoplasia, Premature loss of permanent tee... OMIM:212780
Eiken Syndrome
Oligodontia, Flattened epiphysis, Thick lower lip vermilion, Broad metatarsal, Eruption failure, ... OMIM:600002
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, High palate, Tetralogy of Fallot, Rhizomelia, Submucous cleft hard palate, Antever... OMIM:222765
Codas Syndrome
Proximal placement of thumb, Ventricular septal defect, Atrial septal defect, Atrioventricular ca... OMIM:600373
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Metaphyseal cupping, Pes cavus, Irregular capital femoral epiphysis, Short femoral... OMIM:616716
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Horseshoe kidney, Perimembranous ventricular septal defect, Abnormal heart ... ORPHA:363444
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal atresia, Gastroesophageal reflux, Esophageal stenosis, Esophageal food impaction, Esop... ORPHA:411696
Ulnar Hypoplasia
Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ... OMIM:191440
Spondyloperipheral Dysplasia
Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l... OMIM:271700
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Total anomalous pulm... OMIM:613854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Absent thumb, Primum atrial septal defect, Anteriorly placed anus OMIM:615272
Diamond-Blackfan Anemia 11
Unilateral radial aplasia, Unilateral renal agenesis, Bicuspid aortic valve, Forearm reduction de... OMIM:614900
Ulnar Hypoplasia With Mental Retardation
Limited elbow movement, Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus OMIM:276821
Feingold Syndrome 1
Depressed nasal tip, Esophageal atresia, High palate, Thick vermilion border, Short thumb, Duoden... OMIM:164280
Chromosome 3Pter-P25 Deletion Syndrome
Anal atresia, High palate, Gastroesophageal reflux, Broad nasal tip, Prominent nasal bridge, Post... OMIM:613792
Ulna Hypoplasia-Intellectual Disability Syndrome
Ulnar deviation of finger, Mesomelia, Micromelia, Talipes, Broad thumb, Metatarsus adductus, Hypo... ORPHA:2249
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Abnormality of the lower limb,... ORPHA:2141
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Vacterl With Hydrocephalus
Esophageal atresia, Anal atresia, Hip dislocation, Tracheoesophageal fistula, Hydrocephalus, Spin... ORPHA:3412
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Holoprosencephaly, Tapered finger OMIM:300706
Saul-Wilson Syndrome
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars... OMIM:618150
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Short humerus, High palate, Hip dislocation, Rhizomelia, Dislocated radial head, Hypoplastic scap... OMIM:602471
Kinsship Syndrome
Hip dislocation, Polydactyly, Horseshoe kidney, Ankyloglossia, Widely spaced teeth, Ventriculomeg... OMIM:619297
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Hip dysplasia, Limb undergrowth, Capitate-hamate fusion, Short nose, Sho... OMIM:614078
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, Atrioventricula... OMIM:613751
Mesomelic Dysplasia, Savarirayan Type
Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl... ORPHA:85170
Blepharocheilodontic Syndrome 1
Conical tooth, Anal atresia, Choanal atresia, Cutaneous syndactyly, Hypodontia, Clinodactyly, Neu... OMIM:119580
Cartilage-Hair Hypoplasia
Limited elbow extension, Esophageal atresia, Metaphyseal cupping, Metaphyseal widening, Malabsorp... OMIM:250250
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... OMIM:211350
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Cleft palate, Anencephaly, Ectop... ORPHA:2476
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Ventriculomegaly, Micromelia, Single transverse palmar crease, Tibial bowing, Br... OMIM:612651
Orofaciodigital Syndrome Vi
Broad nasal tip, Hypoplastic left heart, Incomplete cleft of the upper lip, Preaxial foot polydac... OMIM:277170
Meckel Syndrome, Type 8
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Pericardial effusion, Talipe... OMIM:613885
Atelosteogenesis Type Ii
Increased femoral anteversion, Rhizomelia, Cleft palate, Micromelia, Hypoplastic cervical vertebr... ORPHA:56304
Orofaciodigital Syndrome X
Cleft palate, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly, Depressed ... OMIM:165590
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
14Q24.1Q24.3 Microdeletion Syndrome
Prominent nasal bridge, Short thumb, Ventricular septal defect, Ectopic kidney, Atrial septal def... ORPHA:401935
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Cleft palate, ... ORPHA:440354
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dislocation, Hip dysplasia, Bifid uvula, Atrial septal defect, Pes cavus, Choanal atresia, Cl... OMIM:300968
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... ORPHA:2639
Baller-Gerold Syndrome
Malabsorption, Cleft palate, Narrow mouth, Aplasia/Hypoplasia of the patella, Hydronephrosis, Sho... ORPHA:1225
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Megacystis, Hiatus hernia, Volvulu... OMIM:619350
Cocaine Embryofetopathy
Encephalocele, Short distal phalanx of finger, Intestinal atresia ORPHA:1911
Feingold Syndrome Type 2
Short thumb, Ventricular septal defect, Jejunal atresia, Short middle phalanx of finger, Toe synd... ORPHA:391646
Campomelic Dysplasia
Shortening of all phalanges of the toes, Hip dislocation, Abnormal heart morphology, Cleft palate... OMIM:114290
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Hip dislocation, Micropenis, Hydrocephalus, Short ribs, Short nose, O... OMIM:241800
Acheiropodia
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Submucous cleft hard palate, Unilateral renal agenesis, Cho... OMIM:619227
Trisomy 1Q
Hydronephrosis, Camptodactyly of finger, Long foot, Anal atresia, Ventricular septal defect, Hydr... ORPHA:261344
14Q11.2 Microdeletion Syndrome
High palate, Ventricular septal defect, Short nose, Deep philtrum, Everted lower lip vermilion, T... ORPHA:261120
Postaxial Acrofacial Dysostosis
Conical tooth, Midgut malrotation, Congenital hip dislocation, Micropenis, Short thumb, Pyloric s... OMIM:263750
Acromicric Dysplasia
Short nose, Short metacarpal, Abnormal epiphysis morphology, Anteverted nares, Narrow mouth, Long... ORPHA:969
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Fryns Syndrome
Short distal phalanx of finger, Tetralogy of Fallot, Cleft palate, Ventriculomegaly, Multicystic ... ORPHA:2059
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Right Atrial Isomerism
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... OMIM:208530
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Bifid uvula, Ventricular septal defect, Atrial septal defect, Short nose, Pul... OMIM:301030
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Micropenis, Short thumb, Absent radius, Horseshoe kidney, Ectopic kidney, Tra... OMIM:227646
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Orofacial cleft, Convex nasal ridge, Lower limb undergrowth OMIM:218650
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Anal atresia, Wide nasal bridge OMIM:309620
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Penoscrotal transposition, Choanal atresia, Single transverse palmar crease, Camptod... OMIM:619148
Thanatophoric Dysplasia Type 2
Encephalocele, Increased nuchal translucency, Abnormal metaphysis morphology, Atrial septal defec... ORPHA:93274
Atelosteogenesis Type I
Malrotation of colon, Abnormality of fibula morphology, Limb undergrowth, Rhizomelia, Multiple re... ORPHA:1190
Acrocardiofacial Syndrome
Split foot, Camptodactyly of finger, Anal atresia, Hallux valgus, Ventricular septal defect, Atri... ORPHA:2008
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Upper limb asymmetry, Anal atresia, Abnormality of fibula morphology, Hip dysplasia, Tooth agenes... ORPHA:2063
Methimazole Embryofetopathy
Esophageal atresia, Ventricular septal defect, Choanal atresia, Tracheoesophageal fistula, Hyposp... ORPHA:1923
Acromesomelic Dysplasia 3
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... OMIM:609441
Ring Chromosome 8 Syndrome
Hydronephrosis, Deviation of finger, Abnormal palate morphology, Abnormality of the ureter, Short... ORPHA:1450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Postaxial hand polydactyly, Hydrocephalus OMIM:615937
Hypoglossia-Hypodactyly Syndrome
Short distal phalanx of finger, Anal atresia, High palate, Aplasia/Hypoplasia of the tongue, Jeju... ORPHA:989
Boomerang Dysplasia
Absent radius, Underdeveloped nasal alae, Hypoplastic iliac body, Neonatal death, Fibular aplasia... OMIM:112310
Schisis Association
Encephalocele, Anal atresia, Spina bifida, Unilateral cleft lip, Cleft palate, Micromelia, Anence... ORPHA:63862
Distal Duplication 15Q
Camptodactyly of finger, Anal atresia, High palate, Prominent nasal bridge, Downturned corners of... ORPHA:1707
17P13.3 Microduplication Syndrome
High palate, Congenital hip dislocation, Short nose, Ventriculomegaly, Hypoplasia of penis, Wide ... ORPHA:217385
Immunodeficiency 12
Clubbing, Death in adolescence, Recurrent aphthous stomatitis, Cheilitis, Esophageal stricture OMIM:615468
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Hypospadias ORPHA:141333
Mirage Syndrome
Radial club hand, Gastroesophageal reflux, Overlapping fingers, Microphallus, Hydrocephalus, Acha... OMIM:617053
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Distal Deletion 12Q
Polycystic kidney dysplasia, Supernumerary tooth, Microglossia, Patent foramen ovale, Smooth phil... ORPHA:96149
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metaphysis morphology, Short nose, Abnormal metacarpal morphology, Clinod... ORPHA:2370
Cat-Eye Syndrome (Type I)
Anal atresia, Abnormal heart morphology, Micrognathia DECIPHER:42
Omodysplasia 1
Anterolateral radial head dislocation, Ventricular septal defect, Atrial septal defect, Rhizomeli... OMIM:258315
Renpenning Syndrome
Anal atresia, Cleft palate, High, narrow palate, Narrow mouth, Macrodontia, Broad columella, Shor... ORPHA:3242
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Recurrent upper respiratory tract infections, Micropenis, Short ribs, Rhizomelia, ... OMIM:607143
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Anal atresia, Brachydactyly ORPHA:1436
Vacterl/Vater Association
Tracheal stenosis, Hydronephrosis, Anal atresia, Ectopic kidney, Aplasia/Hypoplasia of the radius... ORPHA:887
Van Den Ende-Gupta Syndrome
Cleft palate, Narrow mouth, Narrow foot, Joint contracture of the hand, Camptodactyly of toe, Hal... OMIM:600920
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Ventricular septal defect, Hydroureter, Meso... OMIM:146510
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Acrocallosal Syndrome
Abnormal pulmonary valve morphology, Bifid uvula, Cleft palate, Preaxial foot polydactyly, Toe sy... OMIM:200990
Stromme Syndrome
Hydronephrosis, Prominent nasal bridge, Duodenal atresia, Preaxial polydactyly, Hydrocephalus, Je... OMIM:243605
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect, Death in infancy, Shortening of all distal phalanges of the finger... OMIM:619135
Hadziselimovic Syndrome
Anal atresia, High palate, Prominent nasal bridge, Atrial septal defect, Ventricular septal defec... OMIM:612946
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis OMIM:619817
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ventriculomegaly, Micromelia, Bifid tongue, Preaxial hand polydactyly, Cleft upper lip, Hydroneph... ORPHA:93271
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Finger syndactyly, Cleft palate, Non-midline cleft lip, Hypoplasia of th... ORPHA:246
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Catel-Manzke Syndrome
Bifid uvula, Ventricular septal defect, Cleft palate, Narrow mouth, Short toe, Single transverse ... OMIM:616145
Distal Deletion 10Q
Hip dislocation, Hip dysplasia, Atrial septal defect, Horseshoe kidney, Short metatarsal, Cleft p... ORPHA:96148
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Ventricular septal defect, Preaxial foot polydactyly, Cleft palate, ... OMIM:134780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Ureteral stenosis, Open mouth, Nephrocalcinosis, Abnormality of the dentition, Renal... OMIM:615398
Cousin Syndrome
Rhizomelia, Cleft palate, Fibular aplasia, Microglossia, Joint contracture of the hand, Hydroneph... OMIM:260660
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Palmoplantar blistering, Mitten deformity, Esophageal stricture, E... ORPHA:79409
Distal Duplication 5Q
Dextrocardia, Prominent nasal bridge, Ventricular septal defect, Short nose, Narrow mouth, Long p... ORPHA:96097
Orofaciodigital Syndrome Xvii
Micropenis, Polydactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, High, narrow palate, C... OMIM:617926
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Anal atresia, Rectal atresia, Hydrocephalus, Ectrodactyly, Hypoplasia of the radius... ORPHA:3016
Chromosome 6Pter-P24 Deletion Syndrome
Anal atresia, High palate, Hip dysplasia, Ventricular septal defect, Atrial septal defect, Tetral... OMIM:612582
Mosaic Trisomy 14
Camptodactyly of finger, High palate, Prominent nasal bridge, Hypoplasia of penis, Cleft palate, ... ORPHA:1703
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... ORPHA:1908
Isolated Klippel-Feil Syndrome
Anal atresia, Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Abnormal shoul... ORPHA:2345
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, High palate, Pulmoni... ORPHA:3098
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect, Cleft palate, ... ORPHA:94066
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand ORPHA:1118
Non-Syndromic Posterior Hypospadias
Anal atresia, Esophageal atresia, Micropenis, Urethral diverticulum, Cleft palate, Ventral shorte... ORPHA:95706
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Atrial septal defe... ORPHA:1860
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Nephrocalcinosis, Aplasia/Hypoplasia involving the metacarpal bon... OMIM:268310
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Broad nasal tip, Delayed ossification of carpal bones, Coxa valga, Dislocated radia... OMIM:617425
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Microphthalmia, Split hand, Aplasia/Hypoplasia of the radius ORPHA:2117
Acromelic Frontonasal Dysostosis
Encephalocele, Broad nasal tip, Midline defect of the nose, Polydactyly, Preaxial polydactyly, Bi... OMIM:603671
Ring Chromosome 21 Syndrome
Narrow palm, Syndactyly, Holoprosencephaly, Abnormal heart morphology, Small hand, Clinodactyly ORPHA:1445
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Acro-Renal-Ocular Syndrome
Short thumb, Tetralogy of Fallot, Horseshoe kidney, Toe syndactyly, Short hallux, Preaxial hand p... ORPHA:959
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Absent hand, Abnormality of the humerus, Camptodactyly of finger,... ORPHA:3138
Fanconi Anemia, Complementation Group R
Anal atresia, Radial dysplasia, Hydrocephalus, Agenesis of permanent teeth, Pelvic kidney, Absent... OMIM:617244
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Mckusick-Kaufman Syndrome
Hydronephrosis, Postaxial foot polydactyly, Anal atresia, High palate, Hypoplastic left heart, Ve... ORPHA:2473
Acromicric Dysplasia
Short phalanx of finger, Deep philtrum, Short metacarpal, Anteverted nares, Narrow mouth, Short l... OMIM:102370
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Abnormality of the knee, Abnormality of the lower limb, Abnormality of the elbow, Esophageal stri... ORPHA:158673
Cat-Eye Syndrome
Hydronephrosis, Anal atresia, Hip dysplasia ORPHA:195
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Preaxial foot pol... ORPHA:380
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Proteinuria, Hand polydactyly, Chronic kidney disease, Renal cyst, Early ossification of capital ... OMIM:208500
Cerebrocostomandibular Syndrome
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Cleft palate, Carious teeth, 1... OMIM:117650
Emanuel Syndrome
Ventricular septal defect, Atrial septal defect, Cleft palate, Ventriculomegaly, Truncus arterios... OMIM:609029
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Anal atresia, Bilateral cleft lip and palate, Finger syndactyly, Carious teeth ORPHA:1997
Fg Syndrome Type 1
Atrial septal defect, Choanal atresia, Ventriculomegaly, Single transverse palmar crease, Mitral ... ORPHA:93932
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Micropenis, Ventricular septal defect, Polysyndactyly of hallux, Sho... OMIM:263520
Cranioectodermal Dysplasia 1
Broad distal phalanges of all fingers, Short distal phalanx of finger, Flattened epiphysis, Rhizo... OMIM:218330
Otoonychoperoneal Syndrome
Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Ankle flexion contracture, Hip contra... OMIM:259780
Sweeney-Cox Syndrome
Short distal phalanx of finger, Broad nasal tip, Choanal atresia, Long fingers, Narrow mouth, 2-5... OMIM:617746
Achondroplasia
Limited elbow extension, Depressed nasal bridge, Genu varum, Hydrocephalus, Short ribs, Rhizomeli... OMIM:100800
3M Syndrome
Congenital hip dislocation, Abnormal metaphysis morphology, Abnormality of the elbow, Abnormal de... ORPHA:2616
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Abnormality... ORPHA:1834
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Esophageal stricture, Dysphagia, Palmoplantar keratoderma, Delayed eruption of... OMIM:616029
Cat Eye Syndrome
Rectal fistula, Hypoplastic left heart, Ventricular septal defect, Horseshoe kidney, Atrial septa... OMIM:115470
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Pseudotrisomy 13 Syndrome
Encephalocele, Postaxial foot polydactyly, Anal atresia, Dextrocardia, Micropenis, Median cleft l... OMIM:264480
Opitz-Kaveggia Syndrome
Choanal atresia, Abnormal heart morphology, Cleft palate, Broad thumb, Narrow palate, Single tran... OMIM:305450
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Microphthalmia, Agenesis of corp... OMIM:164180
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Abnormality of fibula morphology, Abnormal metaphysis morphology, A... ORPHA:1837
Otopalatodigital Syndrome, Type Ii
Short thumb, Atrial septal defect, Short metatarsal, Rocker bottom foot, Cleft palate, Toe syndac... OMIM:304120
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Abnormal palate morphology, Short metatarsal, Short metacarpal, Broad thumb, Wi... ORPHA:1278
Prune Belly Syndrome
Anal atresia, Congenital hip dislocation, Ventricular septal defect, Atrial septal defect, Abnorm... ORPHA:2970
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Microgn... ORPHA:3104
1Q21.1 Microduplication Syndrome
Gastroesophageal reflux, Hip dislocation, Hip dysplasia, Tetralogy of Fallot, Hydrocephalus, Tali... ORPHA:250994
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Inflammation of the large intestine, Neoplasm of the urethra, Phimosis, ... ORPHA:2908
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Gastroesophageal reflux, Abnormal palate morphology, Short nose, Death i... ORPHA:1495
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Cleft palate, Anteverted nares, Micrognathia, Thin upper lip vermilion ORPHA:2015
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... OMIM:246570
Shox-Related Short Stature
Forearm undergrowth, High palate, Lower limb undergrowth, Madelung deformity, Cubitus valgus, Mic... ORPHA:314795
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Cleft palate, Aplasia/Hypoplas... ORPHA:2839
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Micropenis, Short lingual frenulum, Trident pelvis, Widely spaced teeth, Microdont... OMIM:619479
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Hydrocephalus, Cleft palate, Preaxial foot polydactyly, Ventriculomeg... OMIM:614120
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Polysyndactyly of hallux, Atrioventricular canal defect, Short tibia, Preax... ORPHA:2751
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in childhood, Polycystic kidney dysplasia, Hip dislocation, Short thumb, Tetralogy of Fallo... OMIM:210710
Steinfeld Syndrome
Bifid uvula, Phocomelia, Median cleft lip and palate, Missing ribs, Holoprosencephaly, Aplasia/Hy... OMIM:184705
Lowe-Kohn-Cohen Syndrome
Anal atresia, Nephropathy, Anorectal anomaly ORPHA:2408
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Stuve-Wiedemann Syndrome 1
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... OMIM:601559
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Cleft palate, Ventriculomegaly, Thin vermilion border, Smooth philtrum, Enam... OMIM:614701
Atrial Septal Defect 2
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... OMIM:607941
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... OMIM:605274
Ulnar-Mammary Syndrome
Ventricular septal defect, Short 5th finger, Hypoplasia of the radius, Anal stenosis, Short 5th t... OMIM:181450
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Hydrocephalus, Umbilical... OMIM:175700
Emanuel Syndrome
Tooth malposition, Bifid uvula, Ventricular septal defect, Atrial septal defect, Submucous cleft ... ORPHA:96170
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, High palate, Hand polydactyly, Hip dislocation, Abnormality of the u... OMIM:200980
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb, Agenesis of corpus callosum ORPHA:2182
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Syndactyly, Stillbirth, Duplication of phalanx o... OMIM:263630
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Short nose, Microdontia, Cleft palate, Short colu... ORPHA:1248
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Camptodactyly, Anal atresia, High palate, Intestinal malrotation, Ventricular septal d... OMIM:617602
Orofaciodigital Syndrome Xi
Gastroesophageal reflux, Postaxial polydactyly, Cleft palate, Bulbous nose, Wide nasal bridge, Hy... OMIM:612913
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Hydroureter, Tetralogy o... OMIM:265380
Triploidy
Hydrocephalus, Meningocele, Polyhydramnios, Finger syndactyly, Holoprosencephaly, Abnormal cardia... ORPHA:3376
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Lateral ventricle dilatation, Ventriculomegaly, Anteverted nares, Downturned corners ... OMIM:613443
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the... OMIM:256200
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Patellar dislocati... OMIM:618395
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Holoprosencephaly, Adducted thumb, Hydranencephaly ORPHA:2570
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Tooth malposition, Cleft palate, Cone-shaped epi... OMIM:309350
Meckel Syndrome 14
Increased nuchal translucency, Postaxial foot polydactyly, Mitral regurgitation, Postaxial polyda... OMIM:619879
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Hip dislocation, Tetralogy of Fallot, Atrial septal defect, Hydr... ORPHA:84
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Gastroesophageal reflux, Hip dysplasia, Abnormal metaphysis morphology, Irregu... ORPHA:93316
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Gastroesophageal reflux, Enlarged kidney, Communicating hydrocephalus, Short r... OMIM:618188
Boomerang Dysplasia
Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal morphol... ORPHA:1263
Trisomy 12P
Anal atresia, Short nose, Cleft palate, Everted lower lip vermilion, Downturned corners of mouth,... ORPHA:1699
Baller-Gerold Syndrome
Oligodactyly, Bifid uvula, Aplasia of metacarpal bones, Aphalangy of the hands, Cleft palate, Abn... OMIM:218600
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Anal atresia, Aplasia/Hypoplasia involving the pelvis, Hydrocephalus, Missing ... ORPHA:3301
Oculofaciocardiodental Syndrome