Intellectual disability, and Sparse hair

Diseases related with Intellectual disability and Sparse hair

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

Top matches:

WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 Is also known as woolly hair, autosomal recessive 3, with hypotrichosis

Related symptoms:

  • Intellectual disability
  • Diarrhea
  • Immunodeficiency
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3

Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature|pof|primary ovarian insufficiency, fragile x-associated|pofx|hypergonadotropic ovarian failure, x-linked|premature ovarian failure, x-linked|fragile x premature ovarian failure

Related symptoms:

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 1; POF1

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Other less relevant matches:

Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.

ODONTO-ONYCHO-DERMAL DYSPLASIA Is also known as oodd

Related symptoms:

  • Intellectual disability
  • Hyperhidrosis
  • Photophobia
  • Erythema
  • Sparse hair


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ODONTO-ONYCHO-DERMAL DYSPLASIA

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Top 5 symptoms//phenotypes associated to Intellectual disability and Sparse hair

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Fine hair Common - Between 50% and 80% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Sparse hair. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Strabismus Generalized hypotonia Hypertonia Ataxia Deeply set eye Growth delay Hypertelorism Poor speech Absent speech

Rare Symptoms - Less than 30% cases

Broad forehead Scoliosis Narrow palpebral fissure Neonatal hypotonia Hirsutism Short neck Nail dystrophy Intellectual disability, severe Anteverted nares Sparse body hair Sparse and thin eyebrow Low-set, posteriorly rotated ears Posteriorly rotated ears Hypermetropia Downslanted palpebral fissures Abnormal facial shape Premature ovarian insufficiency Curly hair Intrauterine growth retardation High palate Failure to thrive Hypotrichosis Sparse scalp hair Seizures Increased circulating gonadotropin level Hyperhidrosis Sparse eyebrow Abnormality of finger Specific learning disability Mild microcephaly Dysmetria Oculomotor apraxia Low posterior hairline Decreased testicular size Apraxia Gynecomastia Epileptic encephalopathy Inability to walk Poor head control Encephalopathy Muscular hypotonia of the trunk Abdominal obesity Dystonia Hyperreflexia Spasticity Short nose Primary testicular failure Syndactyly Decreased serum testosterone level Mandibular prognathia Truncal obesity High pitched voice Hypergonadotropic hypogonadism Cerebellar atrophy Clinodactyly Upslanted palpebral fissure Thick hair Thick lower lip vermilion Anteverted ears Proptosis CNS hypomyelination Oral leukoplakia Ptosis Peripheral neuropathy Myopia Macrocephaly Cardiomyopathy Atrial septal defect Hyperkeratosis High forehead Intellectual disability, profound Coarse facial features Pulmonic stenosis Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Hemangioma Bilateral ptosis Absent eyebrow Arthropathy Bone marrow hypocellularity Pancytopenia Agenesis of corpus callosum Low anterior hairline Protruding ear Thick eyebrow Everted lower lip vermilion Highly arched eyebrow Abnormal cerebellum morphology Narrow forehead Cerebellar vermis hypoplasia Small hand Long eyelashes Aplasia/Hypoplasia of the corpus callosum Abnormality of skin pigmentation Partial agenesis of the corpus callosum Palpebral edema Limb hypertonia Congenital microcephaly Nonprogressive cerebellar ataxia Upper eyelid edema Midface retrusion Constipation Alopecia Carious teeth Short foot Stridor Bulbous nose Long palpebral fissure Thin upper lip vermilion Wide mouth Blepharophimosis Short philtrum Astigmatism Broad nasal tip Language impairment Long fingers Self-mutilation Wide nasal bridge Fair hair Tics Long toe Inappropriate laughter Photophobia Erythema Dry skin Hypodontia Hyperactivity Depressed nasal bridge Nail dysplasia Autoimmunity Immunodeficiency Rigidity Palmoplantar keratoderma Chronic diarrhea Sparse eyelashes Woolly hair Trichorrhexis nodosa Abnormality of metabolism/homeostasis Webbed neck Motor delay Amenorrhea Secondary amenorrhea Fatigable weakness Gonadal dysgenesis Primary adrenal insufficiency Menstrual irregularities Hypergalactosemia Pain Ectodermal dysplasia Epidermal acanthosis Thin vermilion border Hypoplasia of the pons Ventriculomegaly Hypoplasia of the corpus callosum Tapered finger Dental malocclusion Laryngomalacia Diarrhea Slender long bone Taurodontia Laryngeal stridor Smooth tongue Macrodontia of permanent maxillary central incisor Muscular hypotonia Cryptorchidism Intellectual disability, mild Obesity Delayed skeletal maturation Hypogonadism Small for gestational age Abnormality of primary teeth Conical incisor Hypohidrosis Agenesis of permanent teeth Neoplasm of the skin Oligodontia Palmoplantar hyperkeratosis Reduced number of teeth Abnormality of dental morphology Keratitis Epiphora Anonychia Blepharitis Palmoplantar hyperhidrosis Anodontia Dystrophic toenail Dystrophic fingernails Hypergranulosis Dry hair Selective tooth agenesis Persistence of primary teeth Plantar hyperkeratosis Orthokeratosis Neuropathic arthropathy


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