Generalized hypotonia, and Hirsutism

Diseases related with Generalized hypotonia and Hirsutism

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

Top matches:

Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

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:

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

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Hirsutism

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Hirsutism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Thick eyebrow Hearing impairment Coarse facial features Long eyelashes Short stature Depressed nasal bridge Synophrys Strabismus Hypertrichosis Abnormal facial shape Thick vermilion border Macroglossia Visual impairment Deeply set eye Absent speech High palate Growth delay

Rare Symptoms - Less than 30% cases

Scoliosis Cerebellar hypoplasia Posteriorly rotated ears Inability to walk Narrow mouth Epileptic encephalopathy Sparse hair Delayed speech and language development Intellectual disability, profound Thin upper lip vermilion Hyperactivity Intrauterine growth retardation Aplasia/Hypoplasia of the distal phalanges of the hand Anteverted nares Low-set ears Abnormal corpus callosum morphology Sparse scalp hair Macrocephaly Dandy-Walker malformation Wide nose Wide mouth Spasticity Delayed skeletal maturation Hypertelorism Deep philtrum Clinodactyly Aggressive behavior Generalized myoclonic seizures Hypoplasia of the corpus callosum Sensorineural hearing impairment Wide nasal bridge Short neck Upslanted palpebral fissure Dental crowding Underdeveloped nasal alae Abnormality of cardiovascular system morphology Ataxia Neonatal hypotonia Full cheeks Tetraparesis Question mark ear Mandibular condyle aplasia Tapered finger Cleft at the superior portion of the pinna Flexion contracture Hypsarrhythmia Blindness Muscle fibrillation Lethargy Cerebral visual impairment Cerebral atrophy Kyphoscoliosis Muscular hypotonia Delayed myelination Developmental regression Nephrocalcinosis Irritability Focal motor seizures Abnormality of movement Single transverse palmar crease Thick nasal alae Constipation Delayed eruption of permanent teeth Abnormal heart morphology Inverted nipples Agitation Sleep disturbance Downturned corners of mouth Bulbous nose Astigmatism Broad forehead Attention deficit hyperactivity disorder Abnormality of the pinna Anxiety Brachycephaly Prominent forehead Midface retrusion Cryptorchidism Prominent nose Long philtrum Prominent nasal bridge Narrow chest Poor speech Highly arched eyebrow Hypoplastic superior helix Wide intermamillary distance Behavioral abnormality Low anterior hairline Broad hallux Short columella Unilateral cryptorchidism Curly eyelashes Myopia Mandibular condyle hypoplasia Respiratory distress Temporomandibular joint ankylosis Muscular hypotonia of the trunk Hypertonia Dystonia Short nose Syndactyly Encephalopathy Mandibular prognathia Hypermetropia Hyperreflexia Dysmetria Apraxia Low posterior hairline Narrow palpebral fissure Oculomotor apraxia Poor head control Cerebellar atrophy Prominent nasal septum Mild microcephaly Dysplastic corpus callosum Clinodactyly of the 5th finger Autism Febrile seizures Hypertriglyceridemia Finger clinodactyly Incoordination Kyphosis Broad eyebrow Joint hypermobility Small nail Depressed nasal ridge Gingival overgrowth Anonychia Widow's peak Bifid nasal tip Abnormality of finger Thick hair Speech articulation difficulties Cupped ear Low-set, posteriorly rotated ears Apnea Round face Dental malocclusion Preauricular skin tag Poor suck Bulbar palsy Cleft palate Ankylosis Glossoptosis Upper airway obstruction Central apnea Long penis Snoring Overfolding of the superior helices Gastroesophageal reflux Micrognathia Anteverted ears Polydactyly Motor delay Epicanthus Downslanted palpebral fissures Frontal bossing Recurrent infections Rod-cone dystrophy EEG abnormality Infra-orbital crease Feeding difficulties in infancy Polymicrogyria Postaxial polydactyly Cerebellar vermis hypoplasia Encephalocele Molar tooth sign on MRI Enlarged cisterna magna Lacrimal duct aplasia


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