Abnormal facial shape, and Syndactyly

Diseases related with Abnormal facial shape and Syndactyly

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Syndactyly that can help you solving undiagnosed cases.


Top matches:

Low match JOUBERT SYNDROME 22; JBTS22


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 Is also known as mrt22|mental retardation, autosomal recessive 22

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

Low match SYNDACTYLY TYPE 8


Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.

SYNDACTYLY TYPE 8 Is also known as fusion of metacarpals 4 and 5

Related symptoms:

  • Syndactyly
  • Hernia
  • Inguinal hernia
  • Upslanted palpebral fissure
  • Hyperactivity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDACTYLY TYPE 8

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Other less relevant matches:

Low match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

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

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 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME


TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Low match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Low match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Syndactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Ptosis Midface retrusion Brachydactyly Clinodactyly

Rare Symptoms - Less than 30% cases


Talipes equinovarus Camptodactyly Mandibular prognathia Gait ataxia Macrocephaly Small nail Nail dysplasia Seizures Facial asymmetry Frontal bossing Hearing impairment Cutaneous syndactyly Deeply set eye Micrognathia Cutaneous finger syndactyly Delayed speech and language development Low-set ears Short finger Intrauterine growth retardation Wide nasal bridge Encephalopathy Generalized-onset seizure Dysmetria Chorea Epileptic encephalopathy Small hand Tapered finger Progressive cerebellar ataxia Metatarsus adductus High palate Muscle cramps Cutaneous syndactyly of toes Hammertoe Deep philtrum Hip dysplasia Abnormality of the musculature Limitation of joint mobility Distal arthrogryposis Trismus Symphalangism affecting the phalanges of the hand Calcaneovalgus deformity Dysarthria Tall chin Narrow forehead Scoliosis Ataxia Spasticity Cognitive impairment Mild short stature Visual impairment Motor delay Generalized hypotonia Abnormality of the skeletal system Diplopia Abnormality of digit Gingival overgrowth Oligodontia Reduced number of teeth Abnormality of the hand Triphalangeal thumb Congenital sensorineural hearing impairment Anonychia Agenesis of permanent teeth Aplasia cutis congenita Bilateral sensorineural hearing impairment Severe sensorineural hearing impairment Conical tooth High-frequency hearing impairment Hypoplasia of teeth Selective tooth agenesis Anhidrotic ectodermal dysplasia Absent toenail Hidrotic ectodermal dysplasia Hypertrichosis Hypotelorism Cerebral visual impairment Increased intracranial pressure Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Gait disturbance Facial palsy Dental malocclusion Overgrowth Tetraparesis Hyperostosis Ectodermal dysplasia Sclerotic vertebral endplates Sensorineural hearing impairment High forehead Pes planus Nail dystrophy Dolichocephaly Joint hypermobility Short distal phalanx of finger Talipes Arterial stenosis Abnormality of the foot Fused fourth and fifth metacarpals Thin upper lip vermilion Attention deficit hyperactivity disorder Triangular face Split hand Sandal gap Ectrodactyly Hydrocele testis Atrial septal defect Upslanted palpebral fissure Malar flattening Prominent forehead Short foot Round face Hemangioma Bilateral talipes equinovarus Fibular hypoplasia Short 5th finger Hyperactivity Inguinal hernia Aplasia/Hypoplasia of the ulna Postaxial foot polydactyly Microphthalmia Polydactyly Coloboma Postaxial polydactyly Postaxial hand polydactyly Renal hypoplasia Molar tooth sign on MRI Foot polydactyly Retinal dysplasia Hernia Undetectable electroretinogram Microcephaly Intellectual disability, severe Autism Autistic behavior Long face Pointed chin Narrow philtrum Lower limb asymmetry Aplasia/Hypoplasia of the fibula Arthrogryposis multiplex congenita Perimembranous ventricular septal defect Short palm Recurrent fractures Specific learning disability Decreased body weight Finger clinodactyly Aortic regurgitation Bicuspid aortic valve Increased susceptibility to fractures Gastritis Abdominal pain Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Feeding difficulties Dysphagia Hip dislocation Pulmonic stenosis Abnormal heart morphology Postaxial oligodactyly Radial deviation of finger Unilateral ulnar hypoplasia Hepatomegaly Long philtrum Thrombocytopenia Finger syndactyly Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Prolonged bleeding time Patent ductus arteriosus Megakaryocyte dysplasia Failure to thrive Pain Hypertension Ventricular septal defect Cardiomyopathy Renal insufficiency Dilatation Bilateral triphalangeal thumbs



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Talipes equinovarus, related diseases and genetic alterations Hydrocephalus and Cerebral calcification, related diseases and genetic alterations Low-set ears and Deeply set eye, related diseases and genetic alterations Peripheral neuropathy and Lymphoma, related diseases and genetic alterations Strabismus and Decreased body weight, related diseases and genetic alterations

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