Intellectual disability, and Finger syndactyly

Diseases related with Intellectual disability and Finger syndactyly

In the following list you will find some of the most common rare diseases related to Intellectual disability and Finger syndactyly that can help you solving undiagnosed cases.


Top matches:

Low match SPLIT-HAND/FOOT MALFORMATION 6; SHFM6


Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006).For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (OMIM ).

SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 Is also known as ectrodactyly, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Syndactyly
  • Finger syndactyly
  • Toe syndactyly
  • Split hand


SOURCES: OMIM MENDELIAN

More info about SPLIT-HAND/FOOT MALFORMATION 6; SHFM6

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match PARIS-TROUSSEAU THROMBOCYTOPENIA


Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

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Other less relevant matches:

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Low match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Low match WAARDENBURG SYNDROME TYPE 3


Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 3

Low match MONOSOMY 5P


Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Low match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Low match BARDET-BIEDL SYNDROME


Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Finger syndactyly

Symptoms // Phenotype % cases
Brachydactyly Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Low-set, posteriorly rotated ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intellectual disability and Finger syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Clinodactyly Obesity Hypertelorism Failure to thrive Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Global developmental delay Hypertension Ventricular septal defect Renal insufficiency Patent ductus arteriosus High palate Atrial septal defect Postaxial hand polydactyly Nystagmus Intrauterine growth retardation Multicystic kidney dysplasia Recurrent fractures Hypoplasia of penis Hand polydactyly Joint hyperflexibility Abnormal facial shape Cutaneous finger syndactyly Hearing impairment Toe syndactyly Cutaneous syndactyly Epicanthus Microcephaly Hypogonadism Muscular hypotonia Short neck Microretrognathia White hair Brachycephaly Small hand Cataract Abnormality of finger Sensorineural hearing impairment Strabismus Intellectual disability, severe Ataxia Abnormality of the upper limb Cat cry Abnormality of the voice Abnormality of bone mineral density Atelectasis Scoliosis Inguinal hernia Round face High pitched voice Wide nasal bridge Preauricular skin tag Severe global developmental delay Depressed nasal bridge Iris coloboma Asymmetric growth Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Skeletal muscle atrophy Cutis marmorata Prominent nasal bridge Neurological speech impairment Pigmentary retinopathy Nephrotic syndrome Hepatic fibrosis Generalized hirsutism Abnormal electroretinogram Hypoplasia of the ovary Hypermelanotic macule Aplasia/Hypoplasia of the cerebellum Type II diabetes mellitus Frontal bossing Bilateral single transverse palmar creases Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Neoplasm Tracheomalacia Optic atrophy Macrocephaly Ventriculomegaly Arnold-Chiari malformation Hydrocephalus Arrhythmia High forehead Deeply set eye Wide mouth Facial asymmetry Polymicrogyria Full cheeks Acrocyanosis Hydrometrocolpos Synostosis of carpal bones Pyloric stenosis Ptosis Low-set ears Hepatomegaly Long philtrum Thrombocytopenia Abnormality of the cardiovascular system Trigonocephaly Growth delay Radial deviation of finger Prolonged bleeding time Megakaryocyte dysplasia Pain Cardiomyopathy Dilatation Abnormal heart morphology Micrognathia External genital hypoplasia Pulmonic stenosis Blindness Split hand Ectrodactyly Split foot Hand oligodactyly Foot oligodactyly Cognitive impairment Abnormality of the dentition Anosmia Rod-cone dystrophy Polydactyly Reduced visual acuity Nyctalopia Retinal degeneration Retinal dystrophy Renal cyst Abdominal pain Short palm Narrow nasal bridge Glandular hypospadias Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urogenital sinus anomaly Urethral stricture Telecanthus Renal hypoplasia/aplasia Joint stiffness Blepharophimosis Camptodactyly of finger Spastic paraplegia Thick eyebrow Abnormality of the face Tented upper lip vermilion Abnormality of the metacarpal bones Aganglionic megacolon Specific learning disability Arterial stenosis Decreased body weight Finger clinodactyly Aortic regurgitation Bicuspid aortic valve Increased susceptibility to fractures Perimembranous ventricular septal defect Gastritis Intellectual disability, borderline Tetralogy of Fallot Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Cleft palate Hydronephrosis Anal atresia Medial flaring of the eyebrow



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