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 retinal blood vessel morphology Ift172tm2b(EUCOMM)Hmgu HET Early adult 2.52×10-09
abnormal allantois morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal heart morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic growth retardation Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal pharyngeal arch morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Ift172tm2b(EUCOMM)Hmgu HOM   E12.5 0.00
preweaning lethality, complete penetrance Ift172tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal digit morphology Ift172tm2b(EUCOMM)Hmgu HET Early adult 5.26×10-05
abnormal pericardium morphology Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
edema Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo turning Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal embryo development Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
hemorrhage Ift172tm2b(EUCOMM)Hmgu HOM E9.5 0.00
abnormal neural tube closure 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

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 left fundus

16 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

Adult LacZ

LacZ Images Wholemount

12 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Ift172 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Ift172 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... OMIM:200700
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Lethal Faciocardiomelic Dysplasia
Radial club hand, Microglossia, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, S... ORPHA:1972
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Micrognathia, Flat capital femoral epiphysis, Cleft pal... OMIM:601560
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Broad nasal tip, Rhizomelia, Epiphyseal dysp... ORPHA:166016
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Neonatal death, Microglossia, Fibular hypoplasia, Short 5th finger, Hypopl... OMIM:227270
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... OMIM:217095
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Rhombencephalosynapsis
Aganglionic megacolon, Microretrognathia, Polydactyly, Short nose, Esophageal atresia, Complete d... ORPHA:59315
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Atrioventricular canal defect, Proximal placement of thumb, Ana... OMIM:314390
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal heart morphology, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal c... ORPHA:294975
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Broad hallux, Postaxial hand... OMIM:217085
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Cleft palate, Depressed nasal bridge, Esophageal atresia, Wide nasal bridge, An... OMIM:614083
Omodysplasia 2
Limited elbow flexion, Hypospadias, Depressed nasal bridge, Long philtrum, Dislocated radial head... OMIM:164745
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Coffin-Siris Syndrome 11
High palate, Depressed nasal bridge, Wide mouth, Cleft soft palate, Small hand, Bifid uvula, Esop... OMIM:618779
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Cleft palate, Talipes equinovarus, Camptodactyl... OMIM:206920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cleft palate, Talipes equinovarus, Hamartoma of tongue, Short ribs, Micropenis, Fem... OMIM:613091
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... OMIM:617927
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Abnormality of epiphysis morphology, Lower limb undergrowth, Abn... ORPHA:2310
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death, Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius,... OMIM:601376
Acrofacial Dysostosis Syndrome Of Rodriguez
Prominent nose, Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovar... OMIM:201170
Orofaciodigital Syndrome Viii
Cleft palate, High palate, Polydactyly, Broad nasal tip, Syndactyly, Bifid nasal tip, Median clef... OMIM:300484
Femoral-Facial Syndrome
Micrognathia, Cleft palate, Talipes equinovarus, Long penis, Long philtrum, Short nose, Ventricul... ORPHA:1988
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Thin vermilion border, Micropenis, Narrow m... OMIM:612447
Eiken Syndrome
Limited elbow flexion, Broad palm, Abnormal acetabulum morphology, Narrow pelvis bone, Cubitus va... ORPHA:79106
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... ORPHA:2098
Mental Retardation, X-Linked 91
High palate, Cubitus valgus, Small hand, Short nose, Short 5th finger, Short foot, Clinodactyly, ... OMIM:300577
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Death in infancy, Duodenal atresia, Bilateral radial aplasia, Esophage... OMIM:300514
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Fanconi Anemia, Complementation Group O
Hydronephrosis, Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Rectal atr... OMIM:613390
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Apert Syndrome
Pyloric stenosis, Cutaneous finger syndactyly, Cleft palate, Delayed eruption of teeth, Hydroceph... OMIM:101200
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Micrognathia, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of ... ORPHA:2256
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Smooth philtrum, Cleft soft palate, Esophageal atresia, Atrial septal defect, Broad... OMIM:614526
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Postaxial polydactyly, Atrioventricular canal defect, Lim... OMIM:619142
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Arrhinencephaly, Truncus arteriosus, Phocomelia, Aplastic clavicle, Abnormality of ... ORPHA:2538
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Wide nose, Short nose, Genu valgum, Deviation of finger, Coxa ... ORPHA:2831
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Xk Aprosencephaly Syndrome
Ventricular septal defect, Abnormal morphology of the radius, Anal atresia, Atrial septal defect,... ORPHA:3469
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Death in infancy, Short nose, Hypoplasia of the radius, Anteverted nares, Hypoplastic pelvis, Mic... OMIM:602613
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Mental Retardation Syndrome, Mietens-Weber Type
Narrow nose, Pes planus, Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion ... OMIM:249600
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Prominent calcaneus, Short toe, Radial deviation of the hand, Short tibi... ORPHA:2756
Feingold Syndrome 2
2-3 toe syndactyly, Ventricular septal defect, 3-4 toe syndactyly, Short middle phalanx of the 5t... OMIM:614326
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Atrial septal defect, Postaxial oligoda... OMIM:608571
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergro... OMIM:118651
Feingold Syndrome
Hallux valgus, Toe syndactyly, Micrognathia, Depressed nasal bridge, Duodenal atresia, Esophageal... ORPHA:1305
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Short 1st metacarpal, Shor... OMIM:147750
Vacterl Association With Hydrocephalus
Renal hypoplasia, Radial club hand, Abnormal heart morphology, Stillbirth, Anal atresia, Hydrocep... OMIM:276950
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, High palate, Depressed nasal bridge, Rhizomelia, Wide nasal bridge, Stippled calcif... OMIM:222765
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Mandibulofacial Dysostosis, Guion-Almeida Type
Micrognathia, Cleft palate, Ventricular septal defect, Short nose, Proximal placement of thumb, E... OMIM:610536
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Micrognathia, Ventricular septal defect, Anteriorly placed anus, Atrioventricular canal defect, W... OMIM:600123
Feingold Syndrome Type 1
2-3 toe syndactyly, Short middle phalanx of finger, Duodenal atresia, Tricuspid stenosis, Multipl... ORPHA:391641
Langer Mesomelic Dysplasia
Abnormality of the ulna, High palate, Abnormality of epiphysis morphology, Ulnar deviation of fin... ORPHA:2632
Fibrochondrogenesis 1
Broad ischia, Cleft palate, Short nose, Joint contracture of the hand, Short ribs, Camptodactyly,... OMIM:228520
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Wide ... ORPHA:2863
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Autosomal Dominant Omodysplasia
Micrognathia, Depressed nasal bridge, Long philtrum, Rhizomelia, Short nose, Short 1st metacarpal... ORPHA:93328
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Hypospadias, Cleft palate, Short metatarsal, Short ribs, Hydrocepha... OMIM:304120
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, ... ORPHA:52056
Microphthalmia With Limb Anomalies
Arrhinencephaly, Cleft palate, Death in infancy, Talipes equinovarus, Finger syndactyly, Hydrocep... ORPHA:1106
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Micrognathia, Ventricular septal defect, Truncus arteriosus, Neonatal death, Re... OMIM:228940
3C Syndrome
Hypospadias, Cleft palate, Death in infancy, Short nose, Finger syndactyly, Hydrocephalus, Hand p... ORPHA:7
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Absent nasal bridge, Hamartoma of tongue, Neonatal death, Short ribs, Cleft lip, Mi... OMIM:617925
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, 2-3 toe syndactyly, Radial bowing, Micrognathia, Postaxial polydactyly, Ulna... OMIM:617866
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Central diabetes insipidus, Hydrocep... OMIM:609637
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Microphthalmia, Bilateral microphthalmos OMIM:611638
Seckel Syndrome 1
Hypospadias, Cleft palate, Pes planus, 11 pairs of ribs, Elbow flexion contracture, Cone-shaped e... OMIM:210600
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short... OMIM:108720
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Duane-Radial Ray Syndrome
Triphalangeal thumb, Pes planus, Hypoplasia of the radius, Syndactyly, Short humerus, Upper limb ... OMIM:607323
Leg, Absence Deformity Of, With Congenital Cataract
Abnormality of the lower limb, Duplication involving bones of the feet, Anal atresia OMIM:246000
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... OMIM:164900
Apert Syndrome
Toe syndactyly, Cleft palate, Depressed nasal bridge, Ectopic anus, Convex nasal ridge, Aplasia/H... ORPHA:87
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Cleft palate, Flat capital femoral epiphysis, Patellar aplasia, ... OMIM:147891
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Talipes equinovarus, Short metatarsal, Short nose, Proximal placement ... OMIM:609945
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Ritscher-Schinzel Syndrome 1
Hypospadias, Dandy-Walker malformation, Micrognathia, Cleft palate, Hydronephrosis, Depressed nas... OMIM:220210
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial... ORPHA:2878
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Sandal gap, Anteverted nar... ORPHA:217340
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly ORPHA:2523
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial hand polydactyly ORPHA:945
Phocomelia, Schinzel Type
Cleft palate, Short nose, Hypoplasia of the radius, Aplasia/Hypoplasia involving the pelvis, Abno... ORPHA:2879
Hydrolethalus Syndrome 2
Micrognathia, Cleft palate, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Ventriculom... OMIM:614120
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus, Polyhydramnios OMIM:617967
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Acrodysostosis
Depressed nasal ridge, Abnormality of the ulna, Depressed nasal bridge, Cone-shaped epiphysis, Op... ORPHA:950
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Abnormal palate morphology, Anal atresia, Genu valgum, Tetralogy of Fallot, Hypoplas... ORPHA:1381
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Arrhinencephaly, Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia ... ORPHA:1788
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Toe syndactyly, Cleft palate, High palate, Depressed nasal bridge, Broad th... ORPHA:93259
Pallister W Syndrome
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Depressed nasal bridge, Broad na... OMIM:311450
Campomelic Dysplasia
Depressed nasal ridge, Shortening of all phalanges of the toes, Shortening of all phalanges of fi... OMIM:114290
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Proximal placement of thumb, Hypoplasia... OMIM:268305
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... OMIM:615779
Endove Syndrome, Limb-Only Type
Hydronephrosis, Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 f... OMIM:619217
Maternal Phenylketonuria
Micrognathia, High palate, Ventricular septal defect, Long philtrum, Bifid distal phalanx of the ... ORPHA:2209
Brachymesomelia-Renal Syndrome
Micrognathia, Depressed nasal bridge, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia,... OMIM:113470
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Cleft palate, Broad nasal tip, Polydactyly, Talipes equinovarus, U-Shaped up... OMIM:603671
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Microcephaly OMIM:306990
Radial Aplasia, X-Linked
Anal atresia, Penile hypospadias, Hydrocephalus, Absent radius OMIM:312190
Van Bogaert-Hozay Syndrome
Micrognathia, Depressed nasal bridge, Tooth malposition, Distal ulnar hypoplasia, Osteolytic defe... OMIM:277150
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Short philtrum, Talipes equinovarus, Rhizomelia, Wide nose, Short ribs, Hypoplasia o... OMIM:607143
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Micrognathia, Cleft palate, Hydronephrosis, Adducted th... OMIM:616897
Osteopathia Striata With Cranial Sclerosis
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Joint contracture of the hand, Hydrocep... OMIM:300373
W Syndrome
Metatarsus adductus, Radial bowing, Depressed nasal bridge, Broad nasal tip, Agenesis of maxillar... ORPHA:2804
Trisomy 18
Cleft palate, Short nose, Deviation of finger, Camptodactyly of finger, Choanal atresia, Microret... ORPHA:3380
Mental Retardation, Autosomal Recessive 35
Micrognathia, Long philtrum, Wide nose, Downturned corners of mouth, Everted lower lip vermilion,... OMIM:615162
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Absent thumb OMIM:615272
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Even-Plus Syndrome
Renal hypoplasia, Depressed nasal ridge, High palate, Hypodontia, Dysplasia of the femoral head, ... OMIM:616854
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Micrognathia, Long philtrum, Wide nose, Everted lower lip vermilion, Thin upper lip vermilion, Hy... ORPHA:357175
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Abnormal foot mor... ORPHA:75508
Distal Monosomy 13Q
Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the... ORPHA:1590
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Mietens Syndrome
Metatarsus adductus, Elbow ankylosis, Talipes, Avascular necrosis of the capital femoral epiphysi... ORPHA:2557
Pfeiffer Syndrome Type 3
Broad hallux phalanx, Toe syndactyly, Cleft palate, High palate, Horseshoe kidney, Hydronephrosis... ORPHA:93260
Acro-Renal-Mandibular Syndrome
Micrognathia, High palate, Short philtrum, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Campomelic Dysplasia
Micrognathia, Small abnormally formed scapulae, Tibial bowing, Cleft palate, Talipes equinovarus,... ORPHA:140
Cenani-Lenz Syndrome
Toe syndactyly, High, narrow palate, Convex nasal ridge, Hypodontia, Short philtrum, Oligodactyly... ORPHA:3258
Pallister-Hall-Like Syndrome
Micrognathia, Cleft palate, Depressed nasal bridge, Death in infancy, Abnormal heart morphology, ... OMIM:241800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Ventricular septal defect, Holoprosencephaly, Esophageal atresia, 11 pairs of ribs, ... ORPHA:77298
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormalit... ORPHA:2378
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Hypospadias, Cleft palate, Short ribs, Urogenital sinus anomaly, Cleft... ORPHA:1505
Holt-Oram Syndrome
Ventricular septal defect, Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminenc... OMIM:142900
Eiken Syndrome
Short middle phalanx of finger, Oligodontia, Pseudoepiphyses, Long hallux, Type A1 brachydactyly,... OMIM:600002
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Juberg-Hayward Syndrome
Hypospadias, Toe syndactyly, Horseshoe kidney, Dandy-Walker malformation, Abnormality of the elbo... ORPHA:2319
Fryns Syndrome
Hypospadias, Arrhinencephaly, Cleft palate, Duodenal atresia, Proximal placement of thumb, Joint ... OMIM:229850
Codas Syndrome
Metaphyseal dysplasia, Pes valgus, Proximal placement of thumb, Delayed eruption of teeth, Short ... OMIM:600373
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Absent ... ORPHA:1352
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Aganglionic megacolon, Metaphyseal wid... OMIM:250250
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Cleft palate, Hypoplasia of the radius, Abnormal digit morphology, Absent ... OMIM:614900
Vater/Vacterl Association
Patent urachus, Hypospadias, Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Ureterope... OMIM:192350
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... OMIM:218530
Otopalatodigital Syndrome Type 2
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Hydrocephalus, Camptod... ORPHA:90652
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Anencephaly, Aplasia/Hypoplasia of the rad... ORPHA:2476
15Q24 Microdeletion Syndrome
Hypospadias, Smooth philtrum, Proximal placement of thumb, Intestinal atresia, Depressed nasal br... ORPHA:94065
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Dysphagia, Allergic rhinitis, Esophageal furrows, Esophagitis, Abnormal peri... ORPHA:411696
Vacterl With Hydrocephalus
Micrognathia, Arrhinencephaly, Absence of the sacrum, Hypoplasia of the radius, Esophageal atresi... ORPHA:3412
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus OMIM:276821
Distal Monosomy 10P
Micrognathia, Cleft palate, Convex nasal ridge, Ectopic anus, Abnormality of the elbow, Wide nasa... ORPHA:1580
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Cleft palate, High palate, Hamartoma of tongue, Postaxial polydacty... OMIM:258860
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... OMIM:616716
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Carious teeth, Smooth philtrum, Low hanging columella, Micropenis, Unilateral renal ... ORPHA:363444
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... OMIM:260660
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Midline notch of upper alve... OMIM:129540
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Limited elbow extension, Tapered finger OMIM:300706
Blepharocheilodontic Syndrome 1
Hypodontia, Neural tube defect, Cleft upper lip, Clinodactyly, Anal atresia, Conical tooth, Choan... OMIM:119580
Orofaciodigital Syndrome Ix
Toe syndactyly, Cleft palate, High palate, Broad nasal tip, Accessory oral frenulum, Hand polydac... OMIM:258865
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly OMIM:615938
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micrognathia, High palate, Depressed nasal bridge, Ventricular septal defect, Postaxial polydacty... OMIM:618142
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Talipes, Ulnar deviation of finger, Hypoplasia of the ... ORPHA:2249
Van Den Ende-Gupta Syndrome
Hallux valgus, Cleft palate, Talipes equinovarus, Joint contracture of the hand, Long hallux, Fem... OMIM:600920
Hyperphosphatasia With Mental Retardation Syndrome 2
Aganglionic megacolon, Cleft palate, Broad nasal tip, Shortening of all distal phalanges of the f... OMIM:614749
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Abnormality of the diencephalon, Adducted thumb, Holoprosencephaly, Aplasia/Hypo... ORPHA:2570
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Abnormal heart morphology, Absent tibia, Polydactyly OMIM:188740
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... ORPHA:93316
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Endocrine-Cerebroosteodysplasia
Hypospadias, Cleft palate, Micropenis, Syndactyly, Hydrocephalus, Micrognathia, Ulnar deviation o... OMIM:612651
Feingold Syndrome 1
2-3 toe syndactyly, Micrognathia, High palate, 4-5 toe syndactyly, Duodenal atresia, Aplasia/Hypo... OMIM:164280
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Bilateral cleft lip and palate, Ventricular septal defect, Foot oligodactyly, Holoprosenc... OMIM:601357
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... ORPHA:401935
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Microcephaly-Micromelia Syndrome
Micrognathia, Cleft palate, Convex nasal ridge, Talipes equinovarus, Wide nose, Absent radius, Sh... OMIM:251230
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hydrocephalus, Short hum... OMIM:218600
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... OMIM:619350
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Cleft palate, Talipes equinovarus, Depressed nasal br... OMIM:211350
Ulnar Hypoplasia-Split Foot Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot ORPHA:1122
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Cleft palate, Smooth philtrum, Bulbous nose, Choanal atresia, Prominent nose, Depressed nasal bri... OMIM:300968
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Mitten deformity, Esophageal stricture, Palmoplantar blistering, Urethral strictur... ORPHA:79409
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, High palate, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral ... OMIM:602471
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Orofaciodigital Syndrome X
Fibular aplasia, Cleft palate, Hand oligodactyly, Depressed nasal bridge, Coalescence of tarsal b... OMIM:165590
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Cleft palate, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Glossoptosis,... ORPHA:440354
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Fanconi Anemia, Complementation Group R
Hydrocephalus, Anal atresia OMIM:617244
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of t... ORPHA:2669
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Wide nose, Esophageal atresia, Tracheoesoph... OMIM:619227
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... ORPHA:2141
Meier-Gorlin Syndrome 7
Hypospadias, Complete atrioventricular canal defect, 2-3 toe syndactyly, Aplasia/Hypoplasia of th... OMIM:617063
Mirage Syndrome
Hypospadias, Radial club hand, Rocker bottom foot, Talipes equinovarus, Achalasia, Overlapping fi... OMIM:617053
Tibial Hemimelia
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft pala... ORPHA:93322
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... ORPHA:391646
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, A... ORPHA:1908
Holoprosencephaly, Recurrent Infections, And Monocytosis
Tapered finger, Holoprosencephaly, Short finger, Brachydactyly, Short toe, Agenesis of corpus cal... OMIM:610680
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Cleft palate, Excessive femoral anteversion, Hitchhike... ORPHA:56304
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Depressed nasal bridge, Nephrocalcinosis, Long philtrum, Restrictive cardiomyopathy,... OMIM:615398
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Pelvic kidney, Ectopic kidney, Abnormal heart morphology, Esophageal atresia, A... OMIM:227646
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacar... OMIM:614078
Acromicric Dysplasia
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... ORPHA:969
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Short nose, Apla... ORPHA:1225
Ring Chromosome 21 Syndrome
Narrow palm, Holoprosencephaly, Abnormal heart morphology, Small hand, Syndactyly, Clinodactyly, ... ORPHA:1445
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Micrognathia, Cleft palate, Abnormal foot morphology, Cleft... OMIM:263750
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Short long bone, Brachydactyly, M... OMIM:611702
Acrocardiofacial Syndrome
Hypospadias, Hallux valgus, Toe syndactyly, Cleft palate, Death in infancy, Truncus arteriosus, V... ORPHA:2008
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Cleft palate, Proximal radial head dislocation, Hand oligodactyly, High palate, Hyd... OMIM:602418
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Kinsship Syndrome
Death in infancy, Smooth philtrum, Pes planus, Low hanging columella, Bulbous nose, Thin upper li... OMIM:619297
Schisis Association
Cleft palate, Anencephaly, Anal atresia, Unilateral cleft lip, Spina bifida, Tracheoesophageal fi... ORPHA:63862
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of hallux, Nephrotic syndrome, Bifid distal phalanx of the thumb, Partial du... OMIM:256200
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Depressed nasal bridge, Dental malocclusion, Dental crowding, Long philtrum, Cleft ... OMIM:616331
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Micrognathia, High palate, Depressed nasal bridge, Ventricular septal defect, Lon... ORPHA:261120
17P13.3 Microduplication Syndrome
High palate, Wide nose, Short nose, Congenital hip dislocation, Ventriculomegaly, Narrow mouth, C... ORPHA:217385
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Micrognathia, Cleft palate, High palate, Death in infancy, Hypodon... ORPHA:989
Distal Monosomy 12Q
Pyloric stenosis, 2-3 toe syndactyly, Short middle phalanx of finger, Smooth philtrum, Duodenal a... ORPHA:96149
Omodysplasia 1
Limited elbow flexion, Short nose, Increased fibular diameter, Limited elbow extension, Short hum... OMIM:258315
Simpson-Golabi-Behmel Syndrome, Type 2
Broad palm, Cleft palate, High palate, Wide mouth, Talipes equinovarus, Tapered finger, Short fin... OMIM:300209
Atelosteogenesis Type I
Micrognathia, Cleft palate, Talipes equinovarus, Laryngotracheal stenosis, Limb undergrowth, Rhiz... ORPHA:1190
Boomerang Dysplasia
Fibular aplasia, Underdeveloped nasal alae, Hypoplastic iliac body, Neonatal death, Wide nasal br... OMIM:112310
Achondroplasia
Genu varum, Depressed nasal bridge, Bowing of the legs, Rhizomelia, Flared metaphysis, Hydrocepha... OMIM:100800
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Micrognathia, Crowded maxillary incisors, Abnormality of femur morpho... ORPHA:2063
Methimazole Embryofetopathy
Hypospadias, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Choanal at... ORPHA:1923
Fryns Syndrome
Hypospadias, Cleft palate, Duodenal atresia, Anteverted nares, Micrognathia, High palate, Agangli... ORPHA:2059
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Short nose, Abnormal denta... OMIM:601559
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly OMIM:615937
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Distal Trisomy 15Q
Micrognathia, High palate, Long philtrum, Arachnodactyly, Prominent nasal bridge, Anal atresia, D... ORPHA:1707
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Adducted thumb, Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus ca... ORPHA:2182
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Hydrocephalus With Associated Malformations
Short lower limbs, Micrognathia, Tibial bowing, Abnormal foot morphology, Lower limb undergrowth,... OMIM:236640
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Thin vermilion border, Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, N... ORPHA:2370
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Wide nasal bridge, Anal atresia OMIM:309620
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Low hanging colume... OMIM:619148
Temple Syndrome
Micrognathia, Cleft palate, High palate, Depressed nasal bridge, Short philtrum, Wide nose, Small... OMIM:616222
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Short ribs, Micrognathia, Depressed nasal bridge, Long philtrum, Renal cy... ORPHA:93271
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger s... OMIM:274000
Chromosome 17P13.1 Deletion Syndrome
High palate, Proximal placement of thumb, Knee flexion contracture, Prominent nasal bridge, Short... OMIM:613776
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger OMIM:619033
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... ORPHA:959
Femoral-Facial Syndrome
Cleft palate, Truncus arteriosus, Smooth philtrum, Talipes equinovarus, Hypoplastic acetabulae, S... OMIM:134780
Ritscher-Schinzel Syndrome 3
Micrognathia, Death in infancy, Epiphyseal stippling, Atrioventricular canal defect, Shortening o... OMIM:619135
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Cleft palate, Adducted thumb, Rocker bottom foot, Talipes equinovar... OMIM:619110
Distal Monosomy 10Q
Cleft palate, Smooth philtrum, Short metatarsal, Pes valgus, Short nose, Pes planus, Thin upper l... ORPHA:96148
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Abnormality of the knee, Abnormality of the elbow, Abnormality of the lower limb, Palmoplantar ke... ORPHA:158673
Distal Trisomy 5Q
Hypospadias, Dextrocardia, Micrognathia, Ventricular septal defect, Carious teeth, Long philtrum,... ORPHA:96097
Hadziselimovic Syndrome
Thick lower lip vermilion, Renal hypoplasia, Ventricular septal defect, High palate, U-Shaped upp... OMIM:612946
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Triphalangeal thumb, Broad nasal tip, Gingival overgrowth... OMIM:618658
Mosaic Trisomy 14
Hypospadias, Micrognathia, High palate, Cleft palate, Ectopic anus, Lower limb asymmetry, Wide mo... ORPHA:1703
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Prominent nose, Polydactyly, Median cleft lip, Ventriculom... OMIM:617926
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Triphalangeal hallux, Tubulointerstitial nephritis, Broad toe, Short ribs,... OMIM:218330
Cat-Eye Syndrome (Type I)
Abnormal heart morphology, Micrognathia, Anal atresia DECIPHER:42
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter, Short nose, Deviation of f... ORPHA:1450
Vacterl/Vater Association
Hypospadias, Tracheal stenosis, Hydronephrosis, Cleft palate, Anencephaly, Aplasia/Hypoplasia of ... ORPHA:887
Acrocallosal Syndrome
Hypospadias, Cleft palate, Smooth philtrum, Short nose, Finger syndactyly, Micropenis, Microretro... OMIM:200990
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Brachydactyly, Anal atresia ORPHA:1436
Pallister-Hall Syndrome
Cleft palate, Neonatal death, Microglossia, Short nose, Distal shortening of limbs, Micropenis, S... OMIM:146510
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Tapered finger, Long fingers, Short nose, Short toe, Proximal placemen... OMIM:613458
Renpenning Syndrome
Hypospadias, High, narrow palate, Prominent nose, Cleft palate, Short philtrum, Anal atresia, Abn... ORPHA:3242
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Cleft palate, Esophageal atresia, Anal atresia, Urethral divertic... ORPHA:95706
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Abnormality of the metaphysis, Patent ductus arteriosus, Polyhydramnios, Incre... ORPHA:93274
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Talipes equinovarus, Microphthalmia, Microcephaly OMIM:612530
Stromme Syndrome
Bilateral renal hypoplasia, Micrognathia, Cleft palate, Hydronephrosis, Duodenal atresia, Wide mo... OMIM:243605
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Micrognathia, Radial club hand, Broad thumb, Short metatarsal, Wide n... ORPHA:1278
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Micrognathia, High palate, Hypodontia, Tapered finger, Short nose, Thick verm... OMIM:617061
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Absent Radius-Anogenital Anomalies Syndrome
Perineal fistula, Rectovaginal fistula, Hypoplasia of the radius, Anal atresia, Rectal atresia, H... ORPHA:3016
Hartsfield Syndrome
Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Split hand, Aplasia/Hy... ORPHA:2117
Acromicric Dysplasia
Thick lower lip vermilion, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtru... OMIM:102370
Postaxial Acrofacial Dysostosis
Micrognathia, Cleft palate, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft lip, C... ORPHA:246
Kindler Epidermolysis Bullosa
Carious teeth, Premature loss of primary teeth, Dysphagia, Inflammation of the large intestine, S... ORPHA:2908
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Opitz-Kaveggia Syndrome
Pyloric stenosis, Hypospadias, Cleft palate, Joint contracture of the hand, Syndactyly, Hydroceph... OMIM:305450
Cerebrocostomandibular Syndrome
11 pairs of ribs, Short humerus, Ectopic kidney, Elbow flexion contracture, Micrognathia, High pa... OMIM:117650
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Anal atresia, Spina bifida, Abnormal shoul... ORPHA:2345
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Ulnar-Mammary Syndrome
Pyloric stenosis, Renal hypoplasia, Ventricular septal defect, Hypodontia, Ectopic anus, Hypoplas... ORPHA:3138
Mckusick-Kaufman Syndrome
Tarsal synostosis, Hydronephrosis, Cleft palate, High palate, Aganglionic megacolon, Ectopic anus... ORPHA:2473
Triploidy
Meningocele, Holoprosencephaly, Polyhydramnios, Finger syndactyly, Aplasia/Hypoplasia of the corp... ORPHA:3376
Cocaine Embryofetopathy
Intestinal atresia, Short distal phalanx of finger ORPHA:1911
Trisomy 1Q
Toe syndactyly, Hydronephrosis, Cleft palate, Depressed nasal bridge, Ventricular septal defect, ... ORPHA:261344
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... ORPHA:2751
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Cleft palate, Ectopic anus, Short philtrum, Aplasia/Hypoplasia of the ... ORPHA:94066
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Wide nasal bridge, Finger syndactyly, Hydrocep... ORPHA:380
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Depressed nasal bridge, Abnormal sacroiliac joint morphology, Bowing... ORPHA:1860
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Carious teeth, Ventricular septal defect, High palate, Narrow nose, Long nose, Short... OMIM:617602
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Cleft palate, Hamartoma of tongue, Polysyndactyly of hallux, Microglos... OMIM:263520
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Carious teeth, Dysphagia, Mitten deformity, Ankyloglossia, Esophageal str... ORPHA:89842
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Death in infancy, Early ossification of capital femoral epiphyses, Hypoplast... OMIM:208500
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Fg Syndrome Type 1
Pyloric stenosis, Hypospadias, Single transverse palmar crease, Broad toe, Pes planus, Finger syn... ORPHA:93932
Rhizomelic Syndrome, Urbach Type
Micrognathia, Cleft palate, Triphalangeal thumb, High palate, Abnormality of the elbow, Abnormali... ORPHA:3098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Short nose, Thin upper lip vermilion, Anteverted nares ORPHA:2015
Craniosynostosis-Mental Retardation-Clefting Syndrome
Lower limb undergrowth, Convex nasal ridge, Oral cleft, Forearm undergrowth OMIM:218650
3M Syndrome
Hypospadias, Rocker bottom foot, Abnormality of the elbow, Long philtrum, Abnormal dental enamel ... ORPHA:2616
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Abnormal palate morphology, Micrognathia, Death in infancy, Talipes, Short nose, Ventriculomegaly... ORPHA:1495
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Broad palm, Underdeveloped nasal alae, Convex nasal ridge, Smooth philtrum, Hyp... OMIM:618419
Steinfeld Syndrome
Aplasia of the nose, Phocomelia, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Ho... OMIM:184705
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Microgastria, Horseshoe kidney, Aganglionic megacolon, Hand oligodactyly,... OMIM:156810
Pelvis-Shoulder Dysplasia
Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia, Fifth finger distal... ORPHA:2839
Cat-Eye Syndrome
Hydronephrosis, Hip dysplasia, Anal atresia ORPHA:195
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Abnormal intestine morphology, Abnormality of the ureter, Abnormality of the knee, ... ORPHA:1834
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Depressed nasal bridge, Wide nasal bridge, Sandal gap, Enamel hypoplasia, Bulbous no... OMIM:600991
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Tapered finger, Metaphyseal irregularity, Dislocated radial head, Pes planus, H... OMIM:618395
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Mitten deformity, Spontaneous esophageal perforation, Enamel hypoplasia, Esophageal st... OMIM:226600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Prominent nose, Metaphyseal dysplasia, Depressed nasal bridge, Broad nasal tip, Epiphyseal dyspla... OMIM:617425
Blepharo-Cheilo-Odontic Syndrome
Bilateral cleft lip and palate, Carious teeth, Anal atresia, Conical tooth, Finger syndactyly ORPHA:1997
Otoonychoperoneal Syndrome
Hypospadias, Ankle flexion contracture, Knee flexion contracture, Aplasia/Hypoplasia of the fibula OMIM:259780
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Nephropathy, Anal atresia ORPHA:2408
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Ventricular septal defect, High palate, Short 2nd toe, Depressed nasal... OMIM:612582
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Ulnar-Mammary Syndrome
Pyloric stenosis, Short 5th toe, Short clavicles, Ventricular septal defect, Hypodontia, Hypoplas... OMIM:181450
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Depressed nasal bridge, Talipes equinovarus, Mirror image foot polydactyly, Stillbi... OMIM:119800
Ulna Metaphyseal Dysplasia Syndrome
Depressed nasal ridge, Abnormality of the ulna, Microdontia, Aplasia/Hypoplasia of the radius, Ab... ORPHA:1837
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Short nose, Syndactyly, Thin upper lip vermili... OMIM:614701
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Cubitus valgus, Short nose, Absent frontal sinuses, Anteverted n... OMIM:211910
Prune Belly Syndrome
Ventricular septal defect, Abnormality of the ureter, Talipes equinovarus, Congenital posterior u... ORPHA:2970
Juberg-Hayward Syndrome
Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Cleft upper li... OMIM:216100
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Short colume... ORPHA:1248
Pseudotrisomy 13 Syndrome
Dextrocardia, Renal hypoplasia, 2-3 toe syndactyly, Ventricular septal defect, Complete atriovent... OMIM:264480
Short-Rib Thoracic Dysplasia 21 Without Polydactyly