Cognitive impairment, and Hirsutism

Diseases related with Cognitive impairment and Hirsutism

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


Top matches:

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS 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

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


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

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

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Other less relevant matches:

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Low match RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY


Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE


Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Low match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hirsutism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Hirsutism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Synophrys Generalized hirsutism Delayed speech and language development Short stature Hepatomegaly Hearing impairment Intellectual disability, severe Hyperactivity Generalized hypotonia Behavioral abnormality Intellectual disability, mild Hypertension Low anterior hairline Splenomegaly Hypertrichosis Epicanthus Microcephaly High palate Bulbous nose

Rare Symptoms - Less than 30% cases


Cirrhosis Postnatal growth retardation Wide nasal bridge Hypertriglyceridemia Sleep disturbance Hepatic steatosis Mental deterioration Developmental regression Myopia Long philtrum Cerebral atrophy Thin upper lip vermilion Highly arched eyebrow Acanthosis nigricans Hyperinsulinemia Lipodystrophy Low posterior hairline Prominent forehead Thick hair Long eyelashes Brachycephaly Elevated hepatic transaminase Smooth philtrum Hydrocephalus Short neck Ventriculomegaly Scoliosis Dysostosis multiplex Growth delay Micrognathia Generalized lipodystrophy Spasticity Insulin resistance Thick vermilion border Hypoplasia of the corpus callosum Abnormal pyramidal sign Thick eyebrow Small hand Short foot EEG abnormality Cerebellar atrophy Gait ataxia Tremor Macrotia Abnormality of the dentition Downslanted palpebral fissures Macrocephaly Strabismus Abnormality of the skin Joint laxity Abnormality of the pinna Platyspondyly Confusion Prominent nasal bridge Flat face Wide nose Pulmonic stenosis Skeletal dysplasia Protuberant abdomen Abnormal cardiac septum morphology Feeding difficulties in infancy Gastroesophageal reflux Thin vermilion border Thick lower lip vermilion Infantile muscular hypotonia Metaphyseal irregularity Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Irregular vertebral endplates Flat acetabular roof Spondyloepimetaphyseal dysplasia Small epiphyses Poor speech Posterior helix pit Abnormality of the skeletal system Delayed gross motor development Carious teeth Genu valgum Premature birth Cutis marmorata Intestinal malrotation Proximal placement of thumb Dental malocclusion Prominent nose Convex nasal ridge Broad thumb Narrow palate Overlapping toe Muscular hypotonia Broad hallux Long nose Finger clinodactyly Low hanging columella Preeclampsia Overbite Pes valgus Mild myopia Carpal bone hypoplasia Downturned corners of mouth Nystagmus Irregular epiphyses Small basal ganglia Narrow iliac wings Hepatosplenomegaly Pain Expressive language delay Spinal deformities Long hallux Low-set ears Prolonged prothrombin time Abnormality of the mitochondrion Frontal bossing Abnormality of metabolism/homeostasis Periorbital fullness Inguinal hernia Abdominal pain Prolonged partial thromboplastin time Dense calvaria Attention deficit hyperactivity disorder Upper airway obstruction Episodic abdominal pain Joint hypermobility High, narrow palate Macroglossia Memory impairment Hoarse voice Sleep apnea Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Hypertelorism Cleft palate Long fibula Growth abnormality Metaphyseal striations Posterior scalloping of vertebral bodies Hypoplastic nipples Diarrhea Pneumonia Dementia Cerebral cortical atrophy Joint stiffness Corneal opacity Progressive neurologic deterioration Split hand Limb ataxia Recurrent upper respiratory tract infections Clinodactyly of the 5th finger Ptosis Clinodactyly Anteverted nares Coarse hair Brachydactyly Thickened calvaria Restlessness Depressed nasal bridge Asymmetric septal hypertrophy Visceromegaly Heparan sulfate excretion in urine Central nervous system degeneration Thickened ribs Ovoid thoracolumbar vertebrae Autistic behavior Skeletal muscle hypertrophy Retrognathia Myoclonus Global brain atrophy Cortical dysplasia Thoracic scoliosis Thoracic kyphosis Abnormality of the neck Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Hyperreflexia Respiratory insufficiency Myopathy Hypertonia Dystonia Encephalopathy Respiratory failure Lissencephaly Respiratory tract infection Neuronal loss in central nervous system Status epilepticus Tetraparesis Brisk reflexes Reduced subcutaneous adipose tissue Limb dystonia Loss of speech Progressive encephalopathy Progressive psychomotor deterioration Caudate atrophy Poor motor coordination Reduced intraabdominal adipose tissue Dysdiadochokinesis Intellectual disability, progressive Abnormality of the nervous system Generalized hypertrichosis Kyphoscoliosis Wide mouth Delayed eruption of teeth Overgrowth Depressed nasal ridge Gingival overgrowth Widely spaced teeth Relative macrocephaly Deep philtrum Peritonitis Gingival fibromatosis Wide nasal base Thick nasal alae Thoracic kyphoscoliosis Truncal ataxia Congenital, generalized hypertrichosis Sensorineural hearing impairment Dysarthria Kyphosis Absent speech Hyporeflexia Cerebellar hypoplasia Micropenis Dysmetria Short palm Inability to walk Brain atrophy Intention tremor Heterotopia Neoplasm Nevus Autism Acute pancreatitis Nephrolithiasis Tall stature Accelerated skeletal maturation Pancreatitis Polycystic ovaries Clitoral hypertrophy Large hands High pitched voice Polyphagia Decreased fertility Lipoatrophy Long foot Bone cyst Decreased fertility in females Epidermal acanthosis Congenital generalized lipodystrophy Decreased serum leptin Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Labial hypertrophy Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Generalized muscular appearance from birth Failure to thrive Cryptorchidism Intrauterine growth retardation Syndactyly Delayed skeletal maturation Abnormality of the genital system Triangular face Dandy-Walker malformation Aplasia/Hypoplasia of the cerebellum Hemiparesis Thickened skin Abnormality of retinal pigmentation Cranial nerve paralysis Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Melanoma Increased intracranial pressure Encephalitis Intracranial hemorrhage Chorioretinal coloboma Melanocytic nevus Abnormality of neuronal migration Hypertrophic cardiomyopathy Generalized hyperpigmentation Syringomyelia Arachnoid cyst Meningocele Spinal cord compression Meningioma Astrocytoma Papilloma Choroid plexus papilloma Numerous congenital melanocytic nevi Cardiomyopathy Hernia Mandibular prognathia Umbilical hernia Limited elbow movement



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Neutropenia, related diseases and genetic alterations Macrocephaly and Delayed speech and language development, related diseases and genetic alterations Visual impairment and Apraxia, related diseases and genetic alterations Spasticity and Pes cavus, related diseases and genetic alterations

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