Ataxia, and Sparse hair

Diseases related with Ataxia and Sparse hair

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


Top matches:

Low match 46,XX GONADAL DYSGENESIS


46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis|46,xx pure gonadal dysgenesis|46,xx complete gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|hypergonadotropic ovarian dysgenesis|xx-gd|46,xx ovarian dysgenesis|fsh-ro

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about 46,XX GONADAL DYSGENESIS

Low match SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


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

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match REVESZ SYNDROME


Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Low match CARASIL


CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Low match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Top 5 symptoms//phenotypes associated to Ataxia and Sparse hair

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertonia Absent speech Short stature Nystagmus Generalized hypotonia Agenesis of corpus callosum Seizures Hypogonadism Dysmetria Hyperreflexia Cerebellar atrophy Delayed puberty Short nose Fine hair Low-set ears Failure to thrive Spasticity Alopecia Cognitive impairment

Rare Symptoms - Less than 30% cases


Brittle hair Anteverted nares Sparse eyelashes Optic atrophy Protruding ear Intrauterine growth retardation Micropenis Oral leukoplakia Bone marrow hypocellularity Distal muscle weakness Ichthyosis Nail dystrophy Scoliosis Thick eyebrow Gait ataxia Gynecomastia Hypogonadotrophic hypogonadism Partial agenesis of the corpus callosum Long eyelashes Narrow forehead Cataract Inability to walk Cryptorchidism Hirsutism Delayed speech and language development Hearing impairment Sparse pubic hair Decreased fertility Strabismus Dystonia Encephalopathy Broad-based gait Abnormality of metabolism/homeostasis Ophthalmoplegia Abnormal pyramidal sign Rod-cone dystrophy Abnormality of extrapyramidal motor function Paraplegia Peripheral demyelination Memory impairment Urinary incontinence Spastic paraplegia Pallor Hypothyroidism Hypoglycemia Stroke Neurodegeneration Tetraparesis Abnormality of the cerebral white matter Small for gestational age Unsteady gait Severe short stature Peripheral neuropathy Obesity Back pain Gaze-evoked nystagmus Urinary urgency Emotional lability Stroke-like episode Spastic ataxia Apathy Low back pain Arteriosclerosis Pseudobulbar paralysis Diffuse white matter abnormalities Knee pain Frontal bossing Pseudobulbar signs Diffuse leukoencephalopathy Diffuse demyelination of the cerebral white matter Slurred speech Leukoencephalopathy Arteriosclerosis of small cerebral arteries Spastic gait Diplopia Muscle weakness Hemiparesis Progressive encephalopathy Recurrent hypoglycemia Peripheral axonal neuropathy Hypoplasia of the corpus callosum Woolly hair Corneal neovascularization Hypoplasia of teeth Trichorrhexis nodosa Concave nail Tiger tail banding Abnormal facial shape Visual impairment Depressed nasal bridge Myopia Tremor Talipes equinovarus Abnormality of the dentition Macular degeneration Kyphosis Hyporeflexia Kyphoscoliosis Joint stiffness Pectus carinatum Talipes Joint hypermobility Dandy-Walker malformation Generalized-onset seizure Choreoathetosis Abnormal autonomic nervous system physiology Sparse eyebrow Keratoconjunctivitis sicca Severe muscular hypotonia Retinal degeneration Rigidity Distal amyotrophy Progressive cerebellar ataxia Growth hormone deficiency Pigmentary retinopathy Hypoplasia of penis Sparse scalp hair Clumsiness Horizontal nystagmus Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Titubation Hypergonadotropic hypogonadism Alopecia areata Choroideremia Long eyebrows Central heterochromia Epicanthus Ventricular septal defect Microphthalmia Cerebral cortical atrophy Macrotia Retrognathia Microcornea Small nail Mental deterioration Total anosmia Osteoporosis Everted lower lip vermilion Narrow palpebral fissure Oculomotor apraxia Poor head control Abnormality of finger Mild microcephaly Thick hair Anteverted ears Intellectual disability, severe Posteriorly rotated ears Low-set, posteriorly rotated ears Poor speech Highly arched eyebrow Apraxia Abnormal cerebellum morphology Cerebellar vermis hypoplasia Thick lower lip vermilion Low anterior hairline Aplasia/Hypoplasia of the corpus callosum Palpebral edema Limb hypertonia Congenital microcephaly Nonprogressive cerebellar ataxia Upper eyelid edema Midface retrusion Low posterior hairline Epileptic encephalopathy Carious teeth Decreased serum estradiol Delayed skeletal maturation Osteopenia Arachnodactyly Ambiguous genitalia Primary amenorrhea Reduced bone mineral density Premature ovarian insufficiency Pulmonary fibrosis Secondary amenorrhea Gonadal dysgenesis Increased circulating gonadotropin level Streak ovary Hypermetropia Aplasia/Hypoplasia of the breasts Aplasia/hypoplasia of the uterus Osteoporosis of vertebrae Abnormality of secondary sexual hair Hypertelorism Syndactyly Clinodactyly Upslanted palpebral fissure Mandibular prognathia Deeply set eye Muscular hypotonia of the trunk Constipation Abnormality of skin pigmentation Dementia Aplastic anemia Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Anemia Retinopathy Cerebral calcification Progressive neurologic deterioration Hyperpigmentation of the skin Purpura Megalocornea Nail pits Alobar holoprosencephaly Ridged fingernail Leukocoria Reticulated skin pigmentation Exudative retinopathy Fine, reticulate skin pigmentation Pain Hypertension Dysarthria Gait disturbance Dysphagia Babinski sign Decreased circulating luteinizing hormone level Eunuchoid habitus Pancytopenia Renal agenesis Intellectual disability, profound CNS hypomyelination Sensorineural hearing impairment Cleft palate High palate Pes cavus Cleft lip Abnormality of the eye Abnormality of eye movement Facial asymmetry Oral cleft Decreased testicular size Bilateral renal agenesis Hypotelorism Holoprosencephaly Azoospermia Anosmia Unilateral renal agenesis Bilateral cryptorchidism Anodontia Hyposmia Abnormal renal morphology Microphallus Testicular atrophy Bimanual synkinesia Hand clenching



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Malar flattening, related diseases and genetic alterations Arthritis and Narrow forehead, related diseases and genetic alterations Cleft palate and Hydrocephalus, related diseases and genetic alterations Cataract and Polydactyly, related diseases and genetic alterations Sensorineural hearing impairment and Gliosis, related diseases and genetic alterations Growth delay and Atopic dermatitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more