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 pharyngeal arch morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
preweaning lethality, complete penetrance Ift172tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal neural tube closure Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
hemorrhage Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal digit morphology Ift172tm2b(EUCOMM)Hmgu HET Early adult 4.86×10-05
abnormal allantois morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo turning Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal heart morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
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 pericardium morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
edema Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal retina blood vessel morphology Ift172tm2b(EUCOMM)Hmgu HET Early adult 2.74×10-10
embryonic growth retardation Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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 0.79% (4 of 506)
aorta 0.2% (1 of 500)
bone 0.0%
brain 0.96% (5 of 522)
brainstem 0.38% (2 of 520)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 500)
cerebellum 0.58% (3 of 521)
cerebral cortex 0.39% (2 of 509)
esophagus 1.93% (7 of 362)
eye 0.0%
gall bladder 0.0%
heart 0.4% (2 of 502)
hippocampus 0.61% (3 of 492)
hypothalamus 0.41% (2 of 483)
kidney 5.04% (25 of 496)
large intestine 4.96% (25 of 504)
liver 0.0%
lower urinary tract 0.2% (1 of 508)
lung 0.2% (1 of 507)
lymph node 0.2% (1 of 498)
mammary gland 0.0%
mesenteric lymph node 0.36% (1 of 277)
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.2% (1 of 492)
oviduct 0.0%
pancreas 0.97% (5 of 513)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 513)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.02% (10 of 496)
skeletal muscle 0.0%
skin 0.19% (1 of 515)
small intestine 5.25% (26 of 495)
spinal cord 0.6% (3 of 503)
spleen 0.59% (3 of 509)
stomach 3.85% (20 of 519)
striatum 0.59% (3 of 507)
testis 0.98% (5 of 512)
thymus 0.2% (1 of 507)
thyroid gland 3.12% (16 of 512)
trachea 0.57% (3 of 523)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.39% (2 of 515)
vas deferens 4.01% (13 of 324)
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 4.35% (1 of 23)
axial skeleton 0.0%
brain 1.76% (3 of 170)
central nervous system ganglion 0.0%
cranium 0.0%
dorsal root ganglion 0.0%
ear 0.0%
embryo 0.0%
external ear 0.0%
eye 0.0%
femur pre-cartilage condensation 0.0%
footplate 0.61% (1 of 164)
forearm 0.0%
forebrain 0.0%
forelimb 0.63% (1 of 158)
fronto-nasal process 4% (1 of 25)
gut 5% (1 of 20)
handplate 0.0%
head 1.73% (3 of 173)
head mesenchyme 4% (1 of 25)
heart 0.0%
heart ventricle 0.0%
hindbrain 1.26% (2 of 159)
hindlimb 0.64% (1 of 157)
humerus pre-cartilage condensation 4.35% (1 of 23)
inner ear 4% (1 of 25)
intestine 0.0%
liver 0.0%
lower leg 0.0%
lung 0.59% (1 of 170)
mandibular process 0.57% (1 of 176)
maxillary process 0.0%
mesonephros of female 5.56% (1 of 18)
mesonephros of male 0.0%
metanephros 0.0%
midbrain 0.52% (1 of 191)
nasal septum 0.0%
nose 4% (1 of 25)
notochord 0.0%
oral cavity 0.0%
outflow tract 0.0%
pancreas 0.0%
pericardium 4.17% (1 of 24)
pharynx 5% (1 of 20)
radius-ulna pre cartilage condensation 0.0%
rib pre-cartilage condensation 0.0%
skeleton 0.0%
skin 0.0%
spinal cord 0.0%
stomach 0.0%
tail 0.58% (1 of 173)
tail somite group 0.0%
thoracic vertebral cartilage condensation 4.17% (1 of 24)
tongue 0.0%
trachea 0.0%
trunk mesenchyme 0.0%
umbilical artery embryonic part 3.85% (1 of 26)
umbilical vein embryonic part 0.0%
upper arm 0.88% (1 of 114)
upper leg 0.98% (1 of 102)
urinary system 5.56% (1 of 18)
vibrissa 0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

4 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Adult LacZ

LacZ Images Wholemount

12 Images

Eye Morphology

VIP of right 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
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Acromesomelic Dysplasia 2A
Stillbirth, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia... OMIM:200700
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club ha... ORPHA:1972
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... OMIM:601560
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Broad hallux, Complete atrioventricular can... OMIM:217095
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasi... OMIM:227270
Rhombencephalosynapsis
Anal atresia, Narrow mouth, Hydrocephalus, Microretrognathia, Tracheoesophageal fistula, Short ph... ORPHA:59315
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Abnormal hip bone morphology, Upper limb phocomelia, Syndacty... ORPHA:294975
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Postaxial hand polydactyly, Broad hallux, Subvalvular aortic stenosis, Com... OMIM:217085
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Omodysplasia 2
Dislocated radial head, Micropenis, Short 1st metacarpal, Hypospadias, Short humerus, Long philtr... OMIM:164745
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonata... OMIM:613390
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bulbous nose, Small hand, Depressed nasal bridge, Bifid uvula, Downturne... OMIM:618779
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Flared nostrils, Talipes equinovarus, Cleft palate, ... OMIM:206920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... OMIM:613091
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia, Abnormality of femur morphology, Abnormal epiphysis morphology, Abnormality of the ... ORPHA:2310
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Broad nasal tip, Syndactyly, Polydactyly, Bifid nasal tip... OMIM:300484
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Neonatal ... OMIM:601376
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Narrow mouth, Talipes equinovarus, Micrognathia, Short tibia, Short... OMIM:201170
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Cleft palate, Short femur, Micro... ORPHA:1988
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Narrow mouth, Absent thumb, Short femur, Micropenis, Short tibia, Thin vermilion border, Hypoplas... OMIM:612447
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Talipes equinovarus, Tracheoesophageal fistula, Coronal hypospadi... OMIM:619859
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Mental Retardation, X-Linked 91
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Cubitus valgus, Clinodactyly,... OMIM:300577
Fanconi Anemia, Complementation Group B
Duodenal atresia, Hydrocephalus, Absent thumb, Micropenis, Tracheoesophageal fistula, Ventricular... OMIM:300514
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phal... ORPHA:2256
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Micrognathia, Brachydactyly, Broad thumb, Smooth philtrum, Esophageal atres... OMIM:614526
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Atrioventricular canal defect, Limb undergrowth, Genu valgum, Complete atr... OMIM:619142
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Perineal ... ORPHA:2538
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... ORPHA:2831
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Depressed nasal bridge, Hypoplasia of the ulna, Hypoplastic pelvis, Rhi... OMIM:602613
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short middle phalanx of the 2nd finge... OMIM:614326
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd... OMIM:118651
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Langer Mesomelic Dysplasia
High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Mesomelic... ORPHA:2632
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... OMIM:608571
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Narrow nose, Pes planus, Elbow flexion contracture, ... OMIM:249600
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly, ... ORPHA:2756
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Tooth agenesis, Micrognathia, Camptodactyly of f... ORPHA:2863
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Slender finger, Cleft palate, Micrognathia, Ventricular septal defect, Deep... OMIM:610536
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Atrial septal defect, Atri... OMIM:600123
Fibrochondrogenesis 1
Cleft palate, Depressed nasal bridge, Rhizomelia, Short nose, Dumbbell-shaped long bone, Short lo... OMIM:228520
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, Abnormality of the... ORPHA:1106
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Micrognathia, Depressed nasal bridge, Short humerus, Rhizomelia, Anteverted nares, S... OMIM:222765
Apert Syndrome
Hydrocephalus, Cleft palate, Depressed nasal bridge, Cutaneous syndactyly, Delayed eruption of te... OMIM:101200
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... ORPHA:391641
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, 11 pairs of ribs, Rhizomeli... OMIM:108720
Feingold Syndrome
Duodenal atresia, Clinodactyly of the 5th finger, Micrognathia, Deviation of the 2nd finger, Depr... ORPHA:1305
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Depressed nasal ... OMIM:304120
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia, Renal cyst, Renal hy... OMIM:228940
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Micrognathia, Short 1st metacarpal, Short humerus, Long philtrum, Depressed ... ORPHA:93328
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Dep... ORPHA:7
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Atrial septal defect, Abnormality of the nares, Abnormal morphology o... ORPHA:3469
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Holoprosencephaly OMIM:611638
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Depressed nasal bridge, Short long bone, Anal atresia, Narrow greater sciatic notch... OMIM:617925
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... OMIM:607323
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Renal hypoplasi... OMIM:276950
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, Horseshoe kidney, U-Sh... OMIM:609945
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Duplication involving bones of the feet, Abnormality of the lower limb OMIM:246000
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Intestinal malrotation, ... OMIM:617866
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... OMIM:147891
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ... OMIM:210600
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Aquedu... ORPHA:1788
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Apert Syndrome
Ectopic anus, Hydrocephalus, Narrow palate, Aplasia/Hypoplasia of the thumb, Convex nasal ridge, ... ORPHA:87
Multiple Synostoses Syndrome 1
Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short philtrum, Symphalangi... OMIM:186500
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... OMIM:603671
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Atrial septal defect, Aplasia/Hypoplasia of ... ORPHA:52056
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Atrial septal defect, Aortic valve st... OMIM:220210
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Micrognathia, Abnormality of the dentition, Short ph... ORPHA:217340
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Acalvaria
Postaxial hand polydactyly, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Micromelia, Aplasia/Hypoplasia... ORPHA:2879
Fanconi Anemia, Complementation Group L
Anal atresia, Hydrocephalus, Cleft palate, Hypoplastic sacrum, Absent thumb, Tracheoesophageal fi... OMIM:614083
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Short humerus, Micromelia, Abnormality of th... ORPHA:2491
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Genu valgum, Abnormal palate... ORPHA:1381
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Pes c... OMIM:311450
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... ORPHA:3320
Acrodysostosis
Short toe, Abnormal morphology of ulna, Depressed nasal ridge, Open bite, Hypoplasia of the radiu... ORPHA:950
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydrocephalus, Hydranencephaly, Holoprosencephaly OMIM:617967
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Intestinal malrotati... ORPHA:93259
Even-Plus Syndrome
High palate, Anal atresia, Epiphyseal dysplasia, Atrial septal defect, Hypodontia, Depressed nasa... OMIM:616854
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Abnormality of the nares, Short humerus, L... ORPHA:2878
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Short ribs, Micropenis, Micrognathia, Depressed nasal bridge, Microm... OMIM:241800
Maternal Phenylketonuria
High palate, Double outlet right ventricle, Hypoplastic left heart, Micrognathia, Brachydactyly, ... ORPHA:2209
Van Bogaert-Hozay Syndrome
Tooth malposition, Micrognathia, Depressed nasal bridge, Osteolytic defects of the phalanges of t... OMIM:277150
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia, Hydrocephalus, Absent radius OMIM:312190
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Depressed nasal bridge, Microphallus, Abnormal heart morphology, Wi... ORPHA:94065
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Depressed nasal bridge, Single transverse palmar crease, ... OMIM:113470
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Cleft palate, Ventricular septal defect, Thick lower lip vermilion, C... OMIM:300373
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Split foot, Hypoplasia of the radius, Tracheoesoph... ORPHA:958
Trisomy 18
Cleft palate, Anencephaly, Abnormality of the upper limb, Ventricular septal defect, Short nose, ... ORPHA:3380
Mietens Syndrome
Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplasia of the radius,... ORPHA:2557
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Holoprosencephaly, Abno... ORPHA:1590
Short Rib-Polydactyly Syndrome
Cleft palate, Nephronophthisis, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing... ORPHA:1505
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Aplasia/Hypoplasia of the ulna, Cleft upper lip, Hand oligodactyly, Cleft palate, Hy... OMIM:602418
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... ORPHA:75508
W Syndrome
Radial bowing, Broad nasal tip, Pes cavus, Depressed nasal bridge, Camptodactyly, Hypoplasia of t... ORPHA:2804
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Short femur, Short ribs, Micrognathia, Flared metaphysi... OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 35
Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the ulna, Downturned corn... OMIM:615162
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Tracheoesophageal fistula, Hypospadias, 11... ORPHA:77298
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Convex nasal ridge, High, narrow palate, Hypodontia, Hypoplasi... ORPHA:3258
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Cleft palate, Abnormality o... ORPHA:140
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the ulna, Wide nose, Thic... ORPHA:357175
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... OMIM:607143
Pfeiffer Syndrome Type 3
High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Intestinal malrotation, Small hand,... ORPHA:93260
Juberg-Hayward Syndrome
Abnormality of finger, Dandy-Walker malformation, Hypoplasia of the radius, Hypospadias, Radiouln... ORPHA:2319
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Secundum atrial septal defect, Hypoplastic left heart, Abse... OMIM:142900
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... OMIM:218530
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Depressed nasal bridge, Ureteral... ORPHA:90652
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Long hallux, Eruption failur... OMIM:600002
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Postaxial polydactyly, Bilateral talipes equi... OMIM:618142
Distal Monosomy 10P
Ectopic anus, Anal atresia, Clinodactyly of the 5th finger, Convex nasal ridge, Hypoplasia of pen... ORPHA:1580
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus, Absent thumb OMIM:615272
Codas Syndrome
Atrioventricular canal defect, Depressed nasal bridge, Congenital hip dislocation, Delayed erupti... OMIM:600373
Blepharocheilodontic Syndrome 1
Cleft upper lip, Anal atresia, Hypodontia, Cutaneous syndactyly, Neural tube defect, Conical toot... OMIM:119580
Laurin-Sandrow Syndrome
Hydrocephalus, Depressed nasal ridge, Fibular duplication, Abnormality of the nose, Abnormal meta... ORPHA:2378
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... OMIM:258860
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Swan neck-like def... OMIM:616716
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Holoprosencephaly, Amelia, Anterior encephalocele, Bilateral cleft ... OMIM:601357
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Fryns Syndrome
Wide mouth, Cleft palate, Prominent fingertip pads, Single transverse palmar crease, Ventricular ... OMIM:229850
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Short tibia, Abnormality of the dentition, Br... OMIM:258865
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Micrognathia, W... ORPHA:1352
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... OMIM:271700
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Abnormality of the dentition, Long nose, Carious teeth, Horse... ORPHA:363444
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Atrioventricular canal defe... OMIM:274000
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Atrial septal defect, Cleft palate, Shortening of all distal phalanges of the finge... OMIM:614749
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosi... OMIM:614900
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Cousin Syndrome
Hydrocephalus, Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of ... OMIM:260660
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Vater/Vacterl Association
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... OMIM:192350
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Tapered finger, Holoprosencephaly OMIM:300706
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Anal atresia, Overlapping toe, Bulbous nose, Gastroesophageal reflux, Low hanging co... OMIM:613792
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Meckel Syndrome, Type 8
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... OMIM:613885
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of finger, Hypoplasia... ORPHA:2249
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Gastroesophag... ORPHA:93316
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Hypoplasia of the radius, Tracheoesophageal fis... ORPHA:3412
Feingold Syndrome 1
High palate, Duodenal atresia, Short toe, 2-3 toe syndactyly, Everted lower lip vermilion, Trache... OMIM:164280
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius... ORPHA:2476
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Kinsship Syndrome
Wide mouth, Bulbous nose, Short philtrum, Single transverse palmar crease, Horseshoe kidney, Anky... OMIM:619297
Visceral Myopathy 2
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... OMIM:619350
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Micromelia, Anencephaly, Unilateral cleft ... ORPHA:63862
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Baller-Gerold Syndrome
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Anter... OMIM:218600
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal widening, Brac... ORPHA:440354
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bulbous nose, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Tapered finger,... OMIM:300968
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Urethral stricture, Carious teeth, Esophageal stricture, Mitten deformity,... ORPHA:79409
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Cleft palate, Depressed nasal tip, Micromelia, Enlarged kidney, Sandal gap, Microp... OMIM:612651
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Bowing of the legs, 2-3 toe syndactyly, Narrow mouth, Atrial septal de... OMIM:617063
Orofaciodigital Syndrome X
Hand oligodactyly, Cleft palate, Depressed nasal bridge, Coalescence of tarsal bones, Fibular apl... OMIM:165590
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna, Renal hypoplasia OMIM:212780
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Long philtru... ORPHA:401935
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... ORPHA:56304
Feingold Syndrome Type 2
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short ... ORPHA:391646
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... ORPHA:2669
Fanconi Anemia, Complementation Group R
Anal atresia, Hydrocephalus OMIM:617244
Cocaine Embryofetopathy
Short distal phalanx of finger, Encephalocele, Intestinal atresia ORPHA:1911
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Cartilage-Hair Hypoplasia
Coxa vara, Malabsorption, Metaphyseal dysplasia, Metaphyseal cupping, Femoral bowing, Metaphyseal... OMIM:250250
Kyphomelic Dysplasia
Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Cleft palate, Short femur, Fe... OMIM:211350
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Micrognathia, Short humer... OMIM:602471
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Unilateral renal agenesis, Tracheoesophagea... OMIM:619227
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Narrow mouth, Cleft palate, Micrognathia, Brachydactyly, Genu valgum, Short nose, Shor... OMIM:614078
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Micromelia, Brachydactyly, Polyhydramnios... ORPHA:93274
Trisomy 1Q
Anal atresia, Narrow mouth, Hydrocephalus, Microretrognathia, Cleft palate, Congenital megaureter... ORPHA:261344
Baller-Gerold Syndrome
High palate, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the ureter, Short n... ORPHA:1225
Campomelic Dysplasia
High palate, Hydrocephalus, Cleft palate, Depressed nasal ridge, Femoral bowing, Short 1st metaca... OMIM:114290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Restrictive cardiomyopathy, Ankle clonus, Abnormality of the dentition, Depressed na... OMIM:615398
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Convex nasal ridge, Cleft palate, Microgn... OMIM:251230
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of the thumb, Nephrotic syndrome, Partial duplication of the distal phalanx ... OMIM:256200
Tibial Hemimelia
Cleft palate, Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux... ORPHA:93322
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Absent thumb, Micropenis, Tracheoesophageal fistula, Partial duplication of thumb ... OMIM:227646
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Narrow mouth, Bulbous nose, S... ORPHA:969
Fryns Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... ORPHA:2059
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Depressed... ORPHA:261120
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Micrope... OMIM:300209
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Short distal phalanx of finger, Narrow mouth, Aplasia/Hypoplasia of th... ORPHA:989
Acrocardiofacial Syndrome
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Cleft ... ORPHA:2008
Van Esch-O'Driscoll Syndrome
Wide mouth, Pulmonary valve atresia, Clinodactyly of the 5th finger, Atrial septal defect, Trache... OMIM:301030
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Achondroplasia
Bowing of the legs, Hydrocephalus, Depressed nasal bridge, Trident hand, Flared metaphysis, Brach... OMIM:100800
Postaxial Acrofacial Dysostosis
Cleft upper lip, Cleft palate, Micropenis, Hypoplasia of the radius, Micrognathia, Congenital hip... OMIM:263750
Atelosteogenesis Type I
Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol... ORPHA:1190
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Anal atresia, Short middle phalanx of finger, Wide nasal bridge OMIM:309620
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Anal atresia, Abnormality of femur morphology, Narrow palate, Tooth agenesis, Micrognathia, Abnor... ORPHA:2063
Methimazole Embryofetopathy
Tracheoesophageal fistula, Hypospadias, Ventricular septal defect, Choanal atresia, Esophageal at... ORPHA:1923
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... OMIM:619148
Mirage Syndrome
Hydrocephalus, Gastroesophageal reflux, Talipes equinovarus, Radial club hand, Hypospadias, Overl... OMIM:617053
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Distal Monosomy 12Q
Bulbous nose, Long foot, Pyloric stenosis, Broad hallux, Single transverse palmar crease, Clinoda... ORPHA:96149
Distal Trisomy 15Q
High palate, Anal atresia, Arachnodactyly, Micrognathia, Camptodactyly of finger, Long philtrum, ... ORPHA:1707
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Clinodactyly of the 5th finger, Hypoplasia of penis, Congenital hip di... ORPHA:217385
Biemond Syndrome Type 2
Preaxial polydactyly, Hypospadias, Hydrocephalus ORPHA:141333
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Small hand, Micrognathia, Short philtrum, Depressed nas... OMIM:616222
Hydrocephalus With Associated Malformations
Tibial bowing, Hydrocephalus, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal f... OMIM:236640
Boomerang Dysplasia
Hypoplastic nasal septum, Hypoplastic iliac body, Wide nasal bridge, Neonatal death, Underdevelop... OMIM:112310
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Chromosome 17P13.1 Deletion Syndrome
High palate, Long hallux, Hydrocephalus, Ankle clonus, Broad hallux, Anteverted nares, Short foot... OMIM:613776
Acrocallosal Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Triangular mouth, Cleft palate, Shor... OMIM:200990
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Deviation of finger, Anteverted nares, Short nose, Hydronephrosis, Abn... ORPHA:1450
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion ... ORPHA:2370
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Vissers-Bodmer Syndrome
Tapered finger, Holoprosencephaly OMIM:619033
Omodysplasia 1
Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Short nose, Umbilical hernia, Ante... OMIM:258315
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Anal atresia, Short middle phalanx of finger, Brachydactyly ORPHA:1436
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Micromelia, Urethrovaginal fistula, Abnormal metaphysis morphology, Ectop... ORPHA:93271
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Micromelia, Tetralogy of Fallot, Ventricular septa... ORPHA:1908
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... OMIM:612946
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis OMIM:619817
Vacterl/Vater Association
Anal atresia, Abnormal cardiac septum morphology, Finger syndactyly, Cleft palate, Hypoplasia of ... ORPHA:887
Distal Monosomy 10Q
High palate, Cleft palate, Prominent fingertip pads, Tapered finger, Single transverse palmar cre... ORPHA:96148
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth, Oral cleft OMIM:218650
Cat-Eye Syndrome (Type I)
Anal atresia, Micrognathia, Abnormal heart morphology DECIPHER:42
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Holoprosencephaly, Brachydactyly, Tapered finger, Agenesis of corpus callosum, Short f... OMIM:610680
Femoral-Facial Syndrome
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Short no... OMIM:134780
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Zimmermann-Laband Syndrome 3
High palate, Short distal phalanx of finger, Long hallux, Gingival overgrowth, Absent distal phal... OMIM:618658
Stromme Syndrome
Wide mouth, Duodenal atresia, Hydrocephalus, Stillbirth, Cleft palate, Intestinal malrotation, Mi... OMIM:243605
Renpenning Syndrome
Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, Hy... ORPHA:3242
Van Den Ende-Gupta Syndrome
High palate, Cleft palate, Femoral bowing, Depressed nasal bridge, Narrow foot, Tapered finger, G... OMIM:600920
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of th... OMIM:617926
Pallister-Hall Syndrome
Cleft palate, Depressed nasal bridge, Ventricular septal defect, Y-shaped metacarpals, Short nose... OMIM:146510
Mosaic Trisomy 14
High palate, Ectopic anus, Wide mouth, Hypoplasia of penis, Cleft palate, Micrognathia, Camptodac... ORPHA:1703
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Anal atresia, Hydrocephalus, Hypoplasia of the radius, Oligodactyly, Rectovaginal f... ORPHA:3016
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Atrioventricular canal defect, Short 1st metac... OMIM:619135
Postaxial Acrofacial Dysostosis
Cleft palate, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of the ... ORPHA:246
Chromosome 16P13.3 Duplication Syndrome
Short toe, Bulbous nose, Atrial septal defect, Pes cavus, Short phalanx of finger, Tapered finger... OMIM:613458
Acro-Renal-Ocular Syndrome
Radial club hand, Hypoplasia of the ulna, Sandal gap, Horseshoe kidney, Bladder diverticulum, Sho... ORPHA:959
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cleft palate, Ventricular septal defect, Abnormal shoulder morphology... ORPHA:2345
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Opitz-Kaveggia Syndrome
Dental crowding, Wide mouth, Hydrocephalus, Cleft palate, Prominent fingertip pads, Pyloric steno... OMIM:305450
Ring Chromosome 21 Syndrome
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly, Abnormal heart morphology ORPHA:1445
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Hypoplasia of the radius, Micrognathia, Hypospadias, Thin vermilion b... ORPHA:96097
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Cleft upper lip, Clinodactyly of the 5th finger, Narrow mouth, Hydroce... OMIM:612582
Non-Syndromic Posterior Hypospadias
Anal atresia, Cleft palate, Micropenis, Urethral diverticulum, Ventral shortening of foreskin, Di... ORPHA:95706
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Microphthalmia, Split hand, Encephalocele, Lobar holoprosencephaly ORPHA:2117
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Narrow mouth, Bulbous nose, Short metacarpal, Cone-shaped epip... OMIM:102370
Thanatophoric Dysplasia Type 1
Hydrocephalus, Atrial septal defect, Short femur, Femoral bowing, Hypoplastic ilia, Depressed nas... ORPHA:1860
Arms, Malformation Of
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis OMIM:107900
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the distal phalanges of the han... ORPHA:94066
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar hyperkeratosis, Esophageal stricture, Abnormality of the lower limb, Abnormality of ... ORPHA:158673
Rhizomelic Syndrome, Urbach Type
High palate, Short distal phalanx of finger, Abnormality of the tongue, Cleft palate, Pulmonic st... ORPHA:3098
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Wide nasal bridge, Postaxial hand... ORPHA:380
Kindler Epidermolysis Bullosa
Abnormal dental enamel morphology, Cheilitis, Colitis, Periodontitis, Finger syndactyly, Camptoda... ORPHA:2908
Ulnar-Mammary Syndrome
Ectopic anus, Anal atresia, Aplasia/Hypoplasia of the ulna, Abnormality of finger, Short distal p... ORPHA:3138
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Atrial septal defect, Intestinal malrotation, Arachnodactyly, Hypospad... OMIM:617602
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Brachydactyly, Wide nasal bridge, Broad thumb, Abnormal palate mo... ORPHA:1278
Cerebrocostomandibular Syndrome
High palate, Abnormality of the dentition, Congenital hip dislocation, 11 pairs of ribs, Ventricu... OMIM:117650
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Congenital hip dislocation, Anophthalmia, Microphthalmia, Agenesis of corp... OMIM:164180
Pseudotrisomy 13 Syndrome
Cleft upper lip, Anal atresia, Hydrocephalus, 2-3 toe syndactyly, Tricuspid atresia, Atrial septa... OMIM:264480
Cat-Eye Syndrome
Anal atresia, Hip dysplasia, Hydronephrosis ORPHA:195
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Umbilical hernia, A... OMIM:115470
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Atrioventricular c... ORPHA:2751
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Chronic kidney dise... OMIM:208500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Gastroesophageal reflux, Abnormal esophagus morphology, Carious teeth, Esophageal s... ORPHA:89842
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Depr... OMIM:268310
Mckusick-Kaufman Syndrome
High palate, Anal atresia, Ectopic anus, Urogenital sinus anomaly, Atrial septal defect, Hypoplas... ORPHA:2473
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gingival overgrowth, Hydrocephalus, Gastroesophageal reflux, Morphological abnormal... ORPHA:1834
Cranioectodermal Dysplasia 1
High palate, Microdontia, Single transverse palmar crease, Rhizomelia, Stage 5 chronic kidney dis... OMIM:218330
Blepharo-Cheilo-Odontic Syndrome
Anal atresia, Carious teeth, Bilateral cleft lip and palate, Conical tooth, Finger syndactyly ORPHA:1997
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Gastroesophageal reflux, Micrognathia, Camptodactyly of finger, Short nose, Ventric... ORPHA:1495
Fg Syndrome Type 1
High palate, Wide mouth, Malrotation of colon, Hydrocephalus, Limited elbow extension and supinat... ORPHA:93932
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous esophageal perfor... OMIM:226600
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Talipes equinovarus, Intestinal atresia, Atrial septal de... ORPHA:2970
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Gastroesophageal reflux, Secundum atrial septal defect, Absent thumb, ... OMIM:156810
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion ORPHA:2015
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Pyloric stenosis, Hypoplasia of the ulna... OMIM:181450
3M Syndrome
Bulbous nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Hypospadias, Congenita... ORPHA:2616
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Microretrognathia, Cleft palate, Short ribs, Postaxial polydactyly, Preaxial polyda... OMIM:616300
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Micrognathia, Anencephaly, Postaxial hand polydactyly, Postaxial foo... OMIM:614120
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis, Abnormal morphology of ulna, Depressed nasal ridge, Abnormal hip bone morphology... ORPHA:1837
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Anal atresia, Epiphyseal dysplasia, Metaphyseal dysplasia, Delayed ossifi... OMIM:617425
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia, Nephropathy ORPHA:2408
1Q21.1 Microduplication Syndrome
Hydrocephalus, Gastroesophageal reflux, Talipes equinovarus, Hypospadias, Tetralogy of Fallot, Hi... ORPHA:250994
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Otoonychoperoneal Syndrome
Aplasia/Hypoplasia of the fibula, Ankle flexion contracture, Hypospadias, Knee flexion contracture OMIM:259780
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Radioulnar synostosis, Single transverse palmar crease, Short nose, Enamel agenesis... OMIM:614701
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Depressed nasal bridge, Short nose, Twelfth rib hypoplasia, Absent frontal sinuses, ... OMIM:211910
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Microgn... ORPHA:2839
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Orofaciodigital Syndrome Xi
Bulbous nose, Gastroesophageal reflux, Cleft palate, Postaxial polydactyly, Hypoplasia of the odo... OMIM:612913
Steinfeld Syndrome
Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, Bifid uvula, Hypoplasia of the ... OMIM:184705
Hydrolethalus
Hydrocephalus, Micromelia, Anencephaly, Arrhinencephaly, Anophthalmia, Postaxial hand polydactyly... ORPHA:2189
Orofaciodigital Syndrome Xv
Postaxial polydactyly, Lobulated tongue, Broad hallux, Ventriculomegaly, Hydronephrosis, Antevert... OMIM:617127
Emanuel Syndrome
High palate, Hydrocephalus, Cleft palate, Congenital hip dislocation, Abnormality of the ankles, ... ORPHA:96170
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia