Gene Summary

Name:
RecQ protein-like 4
Synonyms:
N/A

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
preweaning lethality, complete penetrance Recql4tm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic lethality prior to organogenesis Recql4tm1.1(KOMP)Vlcg HOM   E9.5 0.00
decreased body length Recql4tm1.1(KOMP)Vlcg HET   Early adult 3.50×10-06

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Select physiological systems to view:
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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
Bone marrow  Section images heterozygote 50% (2 of 4)
Brain  Wholemount images heterozygote 75% (3 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Harderian gland  Section images heterozygote 25% (1 of 4)
Ileum  Section images heterozygote 100% (4 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Midbrain  Wholemount images heterozygote 50% (2 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Skin  Section images heterozygote 50% (2 of 4)
Spinal cord  Wholemount images  Section images heterozygote 75% (3 of 4)
Spleen  Wholemount images heterozygote 25% (1 of 4)
Submandibular gland  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 50% (2 of 4)
Tongue  Wholemount images  Section images heterozygote 75% (3 of 4)
Trigeminal V nerve  Section images heterozygote 25% (1 of 4)
Vas deferens  Wholemount images  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 25% (1 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 25% (1 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (4 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 25% (2 of 8)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 8)
Embryo N/A heterozygote 25% (2 of 8)
Eye N/A heterozygote 0.0% (0 of 8)
Footplate N/A heterozygote 0.0% (0 of 8)
Forebrain N/A heterozygote 25% (2 of 8)
Forelimb N/A heterozygote 0.0% (0 of 8)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 8)
Head N/A heterozygote 0.0% (0 of 8)
Heart N/A heterozygote 25% (2 of 8)
Hindbrain N/A heterozygote 0.0% (0 of 8)
Hindlimb N/A heterozygote 0.0% (0 of 8)
Liver N/A heterozygote 25% (2 of 8)
Lung N/A heterozygote 0.0% (0 of 8)
Mandibular process N/A heterozygote 0.0% (0 of 8)
Maxillary process N/A heterozygote 0.0% (0 of 8)
Midbrain N/A heterozygote 25% (2 of 8)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 8)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 8)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 8)
Tail N/A heterozygote 0.0% (0 of 8)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 577)
aorta 0.17% (1 of 582)
blood 0.0%
bone marrow 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.71% (21 of 368)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
chest bone Unavailable
colon 16.06% (22 of 137)
diaphragm 0.0%
duodenum 3.73% (5 of 134)
epididymis 13.89% (20 of 144)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.34% (2 of 581)
hindlimb 0.0%
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
ileum 13.77% (19 of 138)
jejunum 8.89% (12 of 135)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
stomach pyloric region 0.0%
striatum 0.52% (3 of 578)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
tongue 3.65% (5 of 137)
trachea 0.52% (3 of 579)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.68% (18 of 385)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Adult LacZ

LacZ Images Section

27 Images

Embryo LacZ

LacZ images wholemount

32 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Recql4 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 Recql4 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
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth agenesis, Tooth malposition, Sparse hair, Alopecia, Sparse body hair,... ORPHA:2722
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, Chromosome breakage, Absent thumb, Hypoplasia of the radius, Small the... OMIM:613390
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Anal atresia, Chromosomal breakage induced by crosslinking ... OMIM:605724
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still... ORPHA:294975
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Short stature, Alopecia, Solitary medi... OMIM:188150
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Myelodysplasia, Multiple cafe-au-lait spots, Leukemia, Abnormality of ... OMIM:614082
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Multiple lipomas, Limb duplication, Hand polydactyly, Hip dislocat... OMIM:223200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Ovarian neoplasm, Chromosome break... OMIM:617883
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Death in childhood, Tapered finger, Alopecia totalis, Hyperpigmentation of ... OMIM:302000
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... ORPHA:2325
Parc Syndrome
Microretrognathia, Absent eyebrow, Cleft palate, Alopecia, Absent eyelashes OMIM:600331
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... ORPHA:2228
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Sparse hair, Everted lower lip vermilion, Alopecia, Camptodactyly of finger... ORPHA:2251
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Multiple cafe-au-lait spots, Short thumb OMIM:609054
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Periodontitis, Congenital alopecia totalis OMIM:104130
Cerebellar Ataxia And Ectodermal Dysplasia
Agenesis of permanent teeth, Sparse hair, Alopecia OMIM:212835
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... OMIM:300244
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Stomach cancer, Tapered finger, Furrowed tongue, Generalized hyperpigment... ORPHA:2930
Progressive Osseous Heteroplasia
Brachydactyly, Hypermelanotic macule, Sarcoma ORPHA:2762
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Premature loss of primary teeth, Dry skin, Abnormal fingernail morphology, Fine hair, A... ORPHA:248
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormality of the dent... ORPHA:1008
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Accessory oral frenulum, Hypoplasia of proximal radius, Prea... ORPHA:2756
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Micromelia, Abnormal metaphysis morphology, M... ORPHA:296
Oliver-Mcfarlane Syndrome
Severe short stature, Sparse hair, Decreased response to growth hormone stimulation test, Alopeci... OMIM:275400
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
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
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe short stature, Generalized hypoplasia of dental enamel, Alopecia, Severe postnatal growth ... OMIM:203550
Candidiasis, Familial, 1
Premature loss of teeth, Alopecia OMIM:114580
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... ORPHA:2222
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, 2-3 toe cutaneous syndactyly, Hypoplastic toenails, Sparse scalp hair, Patchy alopeci... OMIM:613573
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Preaxial hand polydactyly, Cleft palate OMIM:601420
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Alopecia, Splenomegaly, Abnormality of the small intestine, Growth d... ORPHA:100025
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... ORPHA:189
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Cleft palate OMIM:172880
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Infantile Myofibromatosis
Neoplasm of the pancreas, Irregular hyperpigmentation, Abnormal metaphysis morphology, Tracheoeso... ORPHA:2591
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Nicolaides-Baraitser Syndrome
Wide mouth, Sparse hair, Alopecia, Excessive wrinkled skin, Abnormal epiphysis morphology, Sandal... ORPHA:3051
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Large hands, Preaxial hand polydactyly, Oral cleft ORPHA:85287
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Hirsutism, Thick eyebrow, Generalized hirsutism, Abnormality of the dentitio... ORPHA:2026
Erythrokeratodermia Variabilis
Generalized hirsutism, Hypermelanotic macule, Irregular hyperpigmentation, Alopecia, Short statur... ORPHA:317
Fanconi Anemia, Complementation Group N
Medulloblastoma, Neuroblastoma, Nephroblastoma, Chromosomal breakage induced by crosslinking agen... OMIM:610832
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Exostoses, Multiple, Type Ii
Chondrosarcoma, Coxa vara, Scapular exostoses, Multiple exostoses, Madelung-like forearm deformit... OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Coxa vara, Scapular exostoses, Multiple exostoses, Madelung-like forearm deformit... OMIM:133700
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 5th finger, Short 3rd toe, Chromosomal breakage induced by crosslinking agents, Short 4th t... OMIM:619060
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Hamartoma, Median cleft lip OMIM:300484
Nevus Comedonicus Syndrome
Preaxial polydactyly, Hamartoma, Finger syndactyly, Toe syndactyly ORPHA:64754
Juvenile Hyaline Fibromatosis
Gingival overgrowth, Abnormality of the gastrointestinal tract, Gingival fibromatosis, Death in i... ORPHA:2028
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Anal atresia, Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal s... OMIM:613091
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Polydactyly OMIM:615990
Radial-Renal Syndrome
Absent radius, Chromosome breakage, Absent thumb OMIM:179280
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Lipoma, Talipes equinovarus, Cleft palate, Preaxia... OMIM:603671
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... OMIM:617294
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ... OMIM:214450
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Camptodactyly of finger, Bowing of th... OMIM:249710
Rhizomelic Chondrodysplasia Punctata
Growth delay, Alopecia, Sparse body hair, Abnormality of the dentition, Short stature, Dry skin, ... ORPHA:177
Dyskeratosis Congenita, Autosomal Recessive 6
Premature loss of teeth, Failure to thrive, Intrauterine growth retardation, Sparse hair, Alopeci... OMIM:616353
Classic Mycosis Fungoides
Hepatomegaly, Irregular hyperpigmentation, Splenomegaly, Alopecia, Erythema, Dry skin, Abnormalit... ORPHA:2584
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Mixed hypo- and hyperpigmentation of the skin, Oral mucosal blisters, Hypermelano... ORPHA:79397
Oculotrichodysplasia
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Sparse eyelashes, Sparse axillary... OMIM:257960
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Alopecia, Ridged nail, Carious teeth OMIM:614564
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short stature, Short 1st metacarpal, Delayed eruption of teeth, Short middle phalanx ... ORPHA:63442
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenom... ORPHA:1133
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Decreased testicular size, Alopecia OMIM:601217
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Irregular hyperpigmentation, Absent thumb, Ulnar deviation of thu... OMIM:194350
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypodontia, Alopecia, Carious teeth, Hyperpigmentation of the skin, Delayed puberty, Melanocytic ... OMIM:612079
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Aase-Smith Syndrome
Neoplasm, Talipes equinovarus, Slender finger, Cleft palate, Abnormal hip bone morphology, Campto... ORPHA:916
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f... OMIM:228560
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Joint contracture of the hand, Chromosome breakage, Generalized hyperpigmentation, Death in infan... OMIM:208910
Hemifacial Atrophy, Progressive
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... OMIM:141300
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Brachydactyly, Broad thumb, Abnormal palate morphology, Short metatarsal, Short... ORPHA:1278
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Cleft palate, Alopecia, Sparse body hair, Brittle hair, Cut... ORPHA:2890
Acrofacial Dysostosis, Weyers Type
Hypoplastic toenails, Clinodactyly of the 5th finger, Hypodontia, Toenail dysplasia, Small hand, ... ORPHA:952
Bloom Syndrome
Clinodactyly of the 5th finger, Chromosome breakage, Hypopigmentation of the skin, Syndactyly, Ly... OMIM:210900
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Hypoplastic toenails, Tooth agenesis, Everted lower lip vermil... ORPHA:1028
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Acromesomelic Dysplasia 2A
Stillbirth, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia... OMIM:200700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Cryptorchidism, Short stature, Micrognathia, Camptodac... ORPHA:2863
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
X-Linked Hypohidrotic Ectodermal Dysplasia
Short distal phalanx of finger, Sparse hair, Everted lower lip vermilion, Sparse body hair, Aplas... ORPHA:181
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... OMIM:607624
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Lymphoma, Palmoplantar keratoderma, Sarcoma ORPHA:454
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of... ORPHA:2025
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Macroglossia, Congenital hip dislocation, Increased body mass index, Dry skin, Dela... OMIM:614450
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Immunodeficiency 54
Lymphoproliferative disorder, Hyperpigmentation of the skin, Chromosome breakage OMIM:609981
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the upper limb ORPHA:2023
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thin upper lip vermilion, Long philtrum, Interphalangeal joint contracture of finger, Preaxial ha... OMIM:606242
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Acromicric Dysplasia
Narrow mouth, Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Long ph... OMIM:102370
Renpenning Syndrome
Growth delay, Narrow mouth, Clinodactyly of the 5th finger, Abnormal hairshaft morphology, High, ... ORPHA:3242
Filippi Syndrome
Hypertrichosis, Decreased body weight, Postnatal growth retardation, Hypodontia, Sparse hair, Thi... OMIM:272440
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Malabsorption, Short stature, Abnormality of the lymphatic system, ... ORPHA:229717
Bardet-Biedl Syndrome 7
Narrow mouth, 2-3 toe syndactyly, Postaxial polydactyly, Polydactyly, Clinodactyly OMIM:615984
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... OMIM:601705
Fanconi Anemia, Complementation Group U
Chromosome breakage, Absent thumb, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st ... OMIM:617247
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Deafness-Craniofacial Syndrome
Short lingual frenulum, Alopecia OMIM:125230
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Malar flattening, Cleft palate, Alopecia, Micrognathia, Flared metaphysis, ... OMIM:215100
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly ORPHA:2091
Coffin-Siris Syndrome 3
Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... OMIM:614608
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Postaxial polydactyly, Bilateral talipes equinovarus, Preaxial poly... OMIM:618142
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Generalized hirsutism, Irregular hyperpigmentation, Hypodontia, Gene... ORPHA:1816
Coffin-Siris Syndrome 2
High palate, Wide mouth, Cleft palate, Short philtrum, Delayed eruption of teeth, Long eyelashes,... OMIM:614607
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Acrogeria
Irregular hyperpigmentation, Short stature, Excessive wrinkled skin, Micrognathia, Small hand, Sh... ORPHA:2500
Pseudoprogeria Syndrome
Failure to thrive, Decreased body weight, Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, ... ORPHA:2985
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia, Short stature, Brachydactyly, Long philtrum, Broad thumb, Thin upper lip v... OMIM:617763
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Congenital giant melanocytic nevus, Rhabdomyosarcoma, Abnormality o... ORPHA:626
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... DECIPHER:46
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Abnormality of the dentition, Sparse eyel... OMIM:129500
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Delayed eruption of teeth, Carious teeth, Hypoplasti... OMIM:265900
Growth Hormone Insensitivity Syndrome
Failure to thrive, Everted lower lip vermilion, Short stature, Delayed eruption of teeth, Truncal... ORPHA:181393
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalange... OMIM:609638
N Syndrome
Neoplasm, Leukemia, Abnormality of chromosome stability OMIM:310465
Hall-Riggs Syndrome
Wide mouth, Failure to thrive, Short stature, Coarse hair, Brachydactyly, Delayed eruption of tee... ORPHA:2107
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Sparse lateral ey... OMIM:190350
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Malabsorption, Alopecia, Glossoptosis, Short stature, Abnormality o... ORPHA:47
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Dental malocclusion, Nail dysplasia, Abnormality of hair texture,... OMIM:601957
Johanson-Blizzard Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Anal atresia, Malabsorption, Alopecia, Shor... ORPHA:2315
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Camptodactyly of finger, Mesom... ORPHA:2631
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Patchy alopecia, Fragile nails, Camptodactyly of finger, Cario... OMIM:226650
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Brachydac... OMIM:258860
Rhizomelic Syndrome, Urbach Type
High palate, Short distal phalanx of finger, Abnormality of the tongue, Cleft palate, Abnormality... ORPHA:3098
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Orofaciodigital Syndrome Type 6
High palate, Cleft palate, Hypothalamic hamartoma, Preaxial polydactyly, Finger clinodactyly, Bra... ORPHA:2754
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Moynahan Syndrome
Cachexia, Short stature, Sparse hair, Alopecia ORPHA:2574
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Prolidase Deficiency
Hirsutism, Generalized hirsutism, Hepatomegaly, Low anterior hairline, Abnormality of retinal pig... ORPHA:742
Fragile X Syndrome
Metacarpophalangeal joint hyperextensibility, Folate-dependent fragile site at Xq28 OMIM:300624
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad thumb, Postaxi... ORPHA:380
Zellweger-Like Syndrome Without Peroxisomal Anomalies
High palate, Failure to thrive, Hepatomegaly, Brittle hair, Alopecia, Short stature, Hyperpigment... ORPHA:50812
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Temple-Baraitser Syndrome
High palate, Wide mouth, Short phalanx of the thumb, Delayed eruption of teeth, Long eyelashes, T... ORPHA:420561
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Chromosome breakage, Anteriorly placed anus, Absent thumb OMIM:615272
Dyskeratosis Congenita
Hepatomegaly, Sparse hair, Alopecia, Abnormality of the dentition, Tracheoesophageal fistula, Car... ORPHA:1775
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Jackson-Weiss Syndrome
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... ORPHA:1540
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Intestinal malrotation, Preaxial polyda... OMIM:617866
Lichen Planopilaris
Hypopigmented skin patches, Alopecia, Abnormal fingernail morphology, Neoplasm of the oral cavity... ORPHA:525
L-Ferritin Deficiency
Alopecia OMIM:615604
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... OMIM:600002
Porphyria Cutanea Tarda
Alopecia, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Hyperpigmentation in sun-ex... OMIM:176100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Malabsorption, Alopecia, Cachexia, Xerostomia, Hematochezia, Glossitis, Hyperpigm... OMIM:175500
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Reticular Dysgenesis
Failure to thrive, Malabsorption, Leukopenia, Abnormality of neutrophils, Weight loss, Aplasia/Hy... ORPHA:33355
Cog7-Cdg
Failure to thrive, Narrow mouth, Abnormality of finger, Hepatomegaly, Adducted thumb, Retrognathi... ORPHA:79333
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Short stature, Hypopigmentation of hair, Neutropenia ORPHA:90023
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Short stature, Hypopigmentation of hair, Generaliz... ORPHA:1355
Pseudopseudohypoparathyroidism
Short stature, Brachydactyly, Delayed eruption of teeth, Enamel hypoplasia, Obesity, Pseudohypopa... OMIM:612463
Ramon Syndrome
Failure to thrive, Generalized hirsutism, Narrow palate, Abnormality of retinal pigmentation, Del... ORPHA:3019
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... OMIM:618342
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Cornelia De Lange Syndrome 2
High palate, Intrauterine growth retardation, Hirsutism, Low anterior hairline, Thick eyebrow, Ga... OMIM:300590
Tetrasomy 12P
Thick upper lip vermilion, Anal atresia, Sparse hair, Abnormal soft palate morphology, Everted lo... ORPHA:884
Adult Syndrome
Absent nipple, Sparse scalp hair, Melanocytic nevus, Toenail dysplasia, Split foot, Alopecia, Abn... ORPHA:978
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Short stature, Arachnodactyly, Delayed eruption of teeth, Long finger... OMIM:619489
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis, Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia,... OMIM:616576
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Finger join... ORPHA:49042
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Hyperpigmentation of the skin, Complete duplication of thumb phalanx, ... OMIM:600901
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Brittle hair, Alopecia, Sparse eyelashes, Abnormality of the dentition, Sparse... OMIM:614929
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Preaxial polyd... OMIM:612651
Mohr Syndrome
High palate, Metaphyseal irregularity, Accessory oral frenulum, Agenesis of central incisor, Clin... OMIM:252100
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Camptodactyly of finger, Dry skin, Facial erythema, Alopecia totalis, Nail dystrophy OMIM:212360
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Carious teeth OMIM:136300
Trisomy 4P
Abnormality of the dentition, Radial club hand, Preaxial hand polydactyly, Camptodactyly of finge... ORPHA:1738
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, ... ORPHA:2850
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Hypoplasia of the ... OMIM:257850
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Low an... ORPHA:73272
Odontochondrodysplasia
Dentinogenesis imperfecta, Short stature, Retrognathia, Cone-shaped epiphysis, Delayed eruption o... ORPHA:166272
Johnson Neuroectodermal Syndrome
Failure to thrive, Severe short stature, Sparse hair, Cleft palate, Everted lower lip vermilion, ... ORPHA:2316
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... ORPHA:337
Werner Syndrome
Miscarriage, Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Rock... ORPHA:902
Brachydactyly, Type E2
Short stature, Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short met... OMIM:613382
Holzgreve Syndrome
Cleft upper lip, Cleft palate, Hand polydactyly OMIM:236110
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Acropectorovertebral Dysplasia
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... ORPHA:957
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Intrauterine growth retardation, Premature graying of hair, Reticulated skin pigm... OMIM:613990
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Fair hair, Blue irides, Malar flattening, Cone-shaped epiphysis,... OMIM:614613
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Abnormality of skin pigmentation, Complete duplication of thumb phalan... OMIM:227650
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Intrau... ORPHA:1327
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Hypodontia, Sparse hair, Alopecia, Abnormality of the dentition, Eryth... ORPHA:659
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Hypodontia, Sparse hair, Sparse eyelashes, Alopecia, Oligodontia, Dry skin, Enamel ... OMIM:607626
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Brachydactyly, Polydactyly OMIM:615982
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Oral mucosal blisters, Oral ulcer, Sarcoma ORPHA:63455
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Brittle hair, Tiger tail banding, Short stature, Eclabion, Tricho... OMIM:616395
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Abnormality of the tongue, Cheilitis, Failure to thrive, Malabsorpti... ORPHA:37
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Sparse eyebrow, Alopecia, Sparse eyelashes, Carious teeth, Enamel hypoplasia, Fac... OMIM:612843
Leishmaniasis
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Pallor, Leukopenia, Abnormal macroph... ORPHA:507
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse hair, Alopecia, Abnormality of the dentition, Carious teeth, Sparse lateral eyebrow, Cleft... ORPHA:3253
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Dentinogenesis imperfect... OMIM:184260
Hypomelanosis Of Ito
Irregularly spaced teeth, Alopecia, Macular hypopigmented whorls, streaks, and patches, Syndactyl... OMIM:300337
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Decreased respon... OMIM:264475
Bresek Syndrome
Cleft palate, Alopecia, Neonatal death, Postaxial hand polydactyly, Decreased testicular size, Gr... ORPHA:85284
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hai... ORPHA:202
Cornelia De Lange Syndrome 5
High palate, Cleft palate, Long eyelashes, Clinodactyly of the 5th finger, Retrognathia, Microgna... OMIM:300882
Menkes Disease
Metaphyseal spurs, Sparse hair, Cutis laxa, Alopecia, Brittle hair, Metaphyseal widening, Hypopig... OMIM:309400
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Otopalatodigital Syndrome Type 2
Anodontia, Narrow mouth, Carpal synostosis, Cleft palate, Flared iliac wing, Glossoptosis, Preaxi... ORPHA:90652
Fanconi Anemia, Complementation Group L
Anal atresia, Chromosome breakage, Cleft palate, Absent thumb, Bilateral talipes equinovarus, Tra... OMIM:614083
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, 1-5 finger complete cutaneous syndactyly, Advanced eruption of teeth ORPHA:2266
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of the dentition, Genu valgum, Bowin... ORPHA:231226
Epidermolysis Bullosa, Junctional 1B, Severe
Nail dysplasia, Failure to thrive, Syndactyly, Carious teeth, Enamel hypoplasia, Pyloric stenosis... OMIM:226700
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... ORPHA:2725
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Chromosomal breakage induced by cro... OMIM:609053
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Short stature, Oligodontia, Nata... OMIM:601345
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Hypodontia, Alopecia, Aplasia/Hypoplasia of the eyebrow, Premature... ORPHA:50944
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Preaxial foot polydactyly, Postaxial foot polydactyly, Cleft palate OMIM:614120
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Hepatomegaly, Sparse hair, Woolly hair, Brittle hair, Small for gesta... OMIM:614602
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon OMIM:235750
Rothmund-Thomson Syndrome, Type 2
High palate, Sparse hair, Sparse eyebrow, Alopecia, Congenital hip dislocation, Delayed eruption ... OMIM:268400
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the radius, Short 5th finger, Neonatal death, Single transverse palma... OMIM:227270
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Hypertrichosis, Small for gestational age, Short stature, Dry skin, Advanced eruptio... OMIM:262190
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Satoyoshi Syndrome
Alopecia universalis, Malabsorption, Alopecia, Short stature, Brachydactyly, Osteolytic defects o... OMIM:600705
Omenn Syndrome
Failure to thrive, Short toe, Hepatomegaly, Leukocytosis, Splenomegaly, Alopecia, Aplasia/Hypopla... ORPHA:39041
Dermatoosteolysis, Kirghizian Type
Nail dysplasia, Split hand, Oligodontia, Nail dystrophy, Skin ulcer OMIM:221810
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short stature, Short middle phalanx o... OMIM:614326
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Short phalanx of fing... OMIM:132400
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Short toe, Supernumerary tooth, High, narrow palate, Decreased re... ORPHA:2980
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Decreased response to growth hormone stimulation test, Hypopigme... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Decreased response to growth hormone stimulation test, Hypopigme... ORPHA:71526
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
High palate, Alopecia, Abnormality of the dentition, Eosinophilia, Micrognathia OMIM:618282
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short toe, Decreased body weight, Short stature, Retrognathia, Dry skin, Postnatal growth retarda... OMIM:612947
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Polydactyly, Postaxial hand polydactyly OMIM:613885
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Median cleft palate, Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polyda... OMIM:119800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Alo... OMIM:615559
Mucocutaneous Ulceration, Chronic
Ileitis, Oral ulcer OMIM:618287
Acrodysostosis
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Short stature, Cone-... ORPHA:950
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Narrow palate, Shor... OMIM:250230
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Abnormality of the dentition, Odontoma, Small intestine c... ORPHA:79665
Rapadilino Syndrome
High palate, High, narrow palate, Cleft palate, Absent thumb, Mottled pigmentation, Aplasia/Hypop... OMIM:266280
Short Syndrome
Severe short stature, Sparse hair, Malar flattening, Alopecia, Excessive wrinkled skin, Abnormali... ORPHA:3163
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Growth delay, Atrichia, Alopecia, Short stature, Tapered finger... ORPHA:1867
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... OMIM:277440
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Anodontia, Cleft palate, Oligodontia, Synostosis of carpal bones,... ORPHA:90650
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Death in adolescence, Neonatal death, Camptodactyly, Bowing of t... OMIM:619751
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... ORPHA:231214
Johnson Neuroectodermal Syndrome
Sparse hair, Cleft palate, Alopecia, Retrognathia, Absent eyebrow, Short stature, Carious teeth, ... OMIM:147770
Au-Kline Syndrome
High palate, Overlapping toe, Cleft palate, Postaxial polydactyly, Deep palmar crease, Oligodonti... OMIM:616580
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Fanconi Anemia, Complementation Group F
Duodenal atresia, Absent thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Hyperpigmentatio... OMIM:603467
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Cutis laxa, Sparse eyebrow, Eclabion, Absent pubic hair, Dry skin, S... ORPHA:2269
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Hypodon... OMIM:612350
Prolidase Deficiency
High palate, Failure to thrive, Petechiae, Hepatomegaly, Splenomegaly, Facial hirsutism, Microgna... OMIM:170100
Orofaciodigital Syndrome Xvii
High, narrow palate, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger... OMIM:617926
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Progressive alopecia, Velopharyngeal insufficiency, Hypodontia, Cl... OMIM:129400
Fanconi Anemia, Complementation Group D2
Absent thumb, Tracheoesophageal fistula, Partial duplication of thumb phalanx, Absent radius, Sho... OMIM:227646
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Short stature, Dystrophic toenail, Fine hair, Dystro... ORPHA:1882
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Narrow mouth, Oral mucosal blisters, Alopecia, Abnormal esophagus morphology, Ena... OMIM:226600
Rothmund-Thomson Syndrome Type 2
High palate, Sparse hair, Cleft palate, Metaphyseal sclerosis, Abnormality of the dentition, Spar... ORPHA:221016
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Premature loss of teeth, Premature graying of hair, Lymphopenia, Sparse hair, Reticula... OMIM:127550
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Multiple cafe-au-lait spots, Patchy alopecia, Short stature, Camptodactyly of finger... ORPHA:85279
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short stature, Short philtrum, Cone-shaped epiphysis, Delayed eruption... ORPHA:71267
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Cutaneous syndactyly of toes, Microdontia, ... OMIM:225000
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Hirsutism, Small for gestational age, Thin vermilion border, Micrognathia, Dea... OMIM:214150
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, ... OMIM:603554
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Syndactyly, Polydactyly, Leukemia, Meningioma, Smooth philtrum OMIM:602501
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Cleft palate, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydac... OMIM:617925
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Rothmund-Thomson Syndrome Type 1
Sparse hair, Metaphyseal sclerosis, Abnormality of the dentition, Sparse or absent eyelashes, Apl... ORPHA:221008
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Everted lower lip vermilion, Alopecia, Short stature, Coarse hair, Long philtrum, P... ORPHA:75389
Lowry-Maclean Syndrome
Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate OMIM:600252
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Hyperpigmentation of the skin, Complete duplication of thumb phalanx, ... OMIM:227645
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hypopigmentat... ORPHA:2221
Infantile Systemic Hyalinosis
Failure to thrive, Gingival overgrowth, Growth delay, Severe short stature, Malabsorption, Steato... ORPHA:2176
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Hypertrichosis, Macroglossia, Long philtrum, Delayed eruption of te... OMIM:616354
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Atelosteogenesis, Type Ii
Talipes equinovarus, Cleft palate, Bifid humerus, Micromelia, Limb undergrowth, Short middle phal... OMIM:256050
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Premature loss of teeth, Narrow mouth, Short clavicles, Growth delay, Sparse hair, B... OMIM:608612
Dermatoosteolysis, Kirghizian Type
Abnormality of the dentition, Oligodontia, Brachydactyly, Abnormality of the nail, Dystrophic toe... ORPHA:1657
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Narrow mouth, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga OMIM:132450
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Cleft palate, Exostoses, Glossoptosis, Long philtrum, Abnormal metacarpal morphology ORPHA:166100
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormality of the denti... ORPHA:573
Coffin-Siris Syndrome 9
High palate, Short distal phalanx of finger, Hypertrichosis, Sparse scalp hair, Hypoplastic fifth... OMIM:615866
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Alopecia, Eosinophilia, Hepatosplenomegaly, Autoim... ORPHA:169154
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... OMIM:601560
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Short stature, Micrognathia, Delayed eruption of teeth OMIM:613849
Flynn-Aird Syndrome
Skin ulcer, Cachexia, Alopecia, Carious teeth ORPHA:2047
Monosomy 18P
Tooth malposition, Cleft palate, Hypodontia, Alopecia, Micrognathia, Short philtrum, Short statur... ORPHA:1598
Premature Aging Syndrome, Penttinen Type
Sparse hair, Thin vermilion border, Micrognathia, Brachydactyly, Delayed eruption of teeth, Slend... OMIM:601812
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Bowing of the legs, Fibrosarcoma, Diaphyseal cortical sclerosis, Stenosis of the medullary cavity... OMIM:112250
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Ca... OMIM:601016
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brachydactyly, Syn... OMIM:615503
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Narrow mouth, Bowing of the legs, 2-3 toe syndactyly, Cleft palate, Pr... OMIM:617063
Aarskog-Scott Syndrome
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Small... ORPHA:915
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Short distal phalanx of finger, Cleft palate, Postaxial polydactyly, Short uvula, Ag... OMIM:614091
Femoral-Facial Syndrome
Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft... ORPHA:1988
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Sparse hair, Brittle hair, Short stature, Thin ... ORPHA:50814
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Bifid tongue, Lobulated ... OMIM:616300
Macs Syndrome
High palate, Gingival overgrowth, Decreased body weight, Sparse hair, Cutis laxa, Sparse eyebrow,... OMIM:613075
Orofaciodigital Syndrome X
Hand oligodactyly, Cleft palate, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand poly... OMIM:165590
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia ORPHA:346
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Alopecia, Sparse eyelashes... OMIM:616367
Duane-Radial Ray Syndrome
Anal atresia, Absent thumb, Hypoplasia of the radius, Pectoralis hypoplasia, Small thenar eminenc... OMIM:607323
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, 1-3 toe syndactyly, Br... OMIM:175700
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome