Intellectual disability, and Hirsutism

Diseases related with Intellectual disability and Hirsutism

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

Top matches:

Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome

Related symptoms:

  • Intellectual disability
  • Coarse facial features
  • Blepharophimosis
  • Joint hyperflexibility
  • Bulbous nose


SOURCES: ORPHANET MENDELIAN

More info about HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Other less relevant matches:

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

Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Top 5 symptoms//phenotypes associated to Intellectual disability and Hirsutism

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Absent speech Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Thick vermilion border Hearing impairment Strabismus Generalized hirsutism Hypertrichosis Microcephaly Seizures Hypertelorism Kyphosis Intellectual disability, severe Cerebellar hypoplasia Thick eyebrow Deep philtrum Epicanthus Generalized hypotonia Gingival overgrowth

Rare Symptoms - Less than 30% cases

Synophrys Mandibular prognathia Cerebellar atrophy Hypertonia Diabetes mellitus Low-set ears Bulbous nose Hyperkeratosis Growth delay Deeply set eye Macrocephaly EEG abnormality Sparse hair Generalized hypertrichosis Dysmetria Inability to walk Epidermal acanthosis Low anterior hairline Everted lower lip vermilion Macrotia Wide nasal bridge Short foot Protruding ear Intellectual disability, profound Depressed nasal ridge Upslanted palpebral fissure Long eyelashes Cerebellar vermis hypoplasia Small hand Sensorineural hearing impairment Downslanted palpebral fissures Abnormality of the dentition Brachydactyly Abnormal facial shape Cognitive impairment Narrow forehead Palpebral edema Macroglossia Abnormal blistering of the skin Thickened skin Tapered finger Cutaneous photosensitivity Palmoplantar keratoderma Abnormality of cardiovascular system morphology Dry skin Bruxism Aplasia of the inferior half of the cerebellar vermis Scoliosis Pain Depressed nasal bridge Talipes equinovarus Hyperactivity Gastroesophageal reflux Hip dislocation Cataract Pruritus Abnormality of the nail Alopecia Hyperhidrosis Glaucoma Weight loss Erythema Skin rash Corneal opacity Abnormality of the hair Recurrent infections Neoplasm of the skin Accelerated skeletal maturation Intellectual disability, mild Obesity Carious teeth Delayed puberty Muscle cramps Type II diabetes mellitus Subcutaneous nodule Insulin resistance Acanthosis nigricans Enlarged cisterna magna Polycystic ovaries Hyperinsulinemia Increased number of teeth Generalized hyperpigmentation Insulin-resistant diabetes mellitus Growth hormone excess Ketoacidosis Prolactin excess Macroorchidism Infra-orbital crease Molar tooth sign on MRI Palmoplantar hyperkeratosis Diffuse palmoplantar hyperkeratosis Scaling skin Hypermelanotic macule Macule Irregular hyperpigmentation Abnormality of the testis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Patchy palmoplantar keratoderma Encephalocele Feeding difficulties Motor delay Frontal bossing Abnormality of the neck Rod-cone dystrophy Polydactyly Feeding difficulties in infancy Polymicrogyria Postaxial polydactyly Atrophy of the dentate nucleus Gingival fibromatosis Thoracic kyphosis Oculomotor apraxia Clinodactyly Muscular hypotonia of the trunk Hypermetropia Epileptic encephalopathy Apraxia Low posterior hairline Narrow palpebral fissure Poor head control Syndactyly Abnormality of finger Mild microcephaly Thick hair Anteverted ears Anteverted nares Agenesis of corpus callosum Posteriorly rotated ears Encephalopathy Short nose Poor speech Underdeveloped nasal alae Blepharophimosis Joint hyperflexibility Abnormality of the hand Furrowed tongue Oral synechia Short neck Joint hypermobility Small nail Dystonia Anonychia Widow's peak Bifid nasal tip Broad eyebrow Prominent nasal septum Spasticity Hyperreflexia Low-set, posteriorly rotated ears Highly arched eyebrow Thoracic scoliosis Brain atrophy Tremor Hypoplasia of the corpus callosum Hyporeflexia Micropenis Gait ataxia Abnormal pyramidal sign Short palm Intention tremor Delayed speech and language development Heterotopia Truncal ataxia Intellectual disability, progressive Lissencephaly Dysdiadochokinesis Global brain atrophy Cortical dysplasia Dysarthria Congenital, generalized hypertrichosis Abnormal cerebellum morphology Kyphoscoliosis Thick lower lip vermilion Aplasia/Hypoplasia of the corpus callosum Partial agenesis of the corpus callosum Limb hypertonia Congenital microcephaly Nonprogressive cerebellar ataxia Upper eyelid edema Wide mouth Thoracic kyphoscoliosis Delayed eruption of teeth Overgrowth Widely spaced teeth Relative macrocephaly Peritonitis Wide nasal base Thick nasal alae Menstrual irregularities


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