Hypertelorism, and Sparse hair

Diseases related with Hypertelorism and Sparse hair

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

Top matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Other less relevant matches:

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

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

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

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

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

Symptoms // Phenotype % cases
Depressed nasal bridge Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Generalized hypotonia Prominent forehead Hypermetropia Sparse eyebrow Epicanthus Low-set ears Strabismus Wide nose Sparse eyelashes

Rare Symptoms - Less than 30% cases

Short stature Microcephaly Clinodactyly Bulbous nose Short nose Dystonia Coarse facial features Posteriorly rotated ears Craniosynostosis Ectodermal dysplasia Thin upper lip vermilion Deeply set eye Wide mouth Narrow palpebral fissure Broad forehead Fine hair Cryptorchidism Upslanted palpebral fissure Trigonocephaly High forehead High palate Feeding difficulties Abnormality of the dentition Anteverted nares Eunuchoid habitus Decreased serum testosterone level Adducted thumb Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Anxiety Female hypogonadism Cleft palate Hypoplasia of the ovary Tented upper lip vermilion Non-obstructive azoospermia Infantile muscular hypotonia Absence of pubertal development Postnatal microcephaly Aciduria Male hypogonadism Secondary amenorrhea Generalized joint laxity Azoospermia Camptodactyly Delayed puberty Wide intermamillary distance Decreased testicular size Primary amenorrhea Micropenis Gynecomastia Hypogonadotrophic hypogonadism Abnormality of body height Osteopenia Abnormality of the voice Congenital sensorineural hearing impairment Osteoporosis Impotence Delayed skeletal maturation Depressivity Hypoplasia of the uterus Sparse body hair Thick eyebrow Myopia Increased female libido Tubulointerstitial nephritis Cognitive impairment Ventricular septal defect Proteinuria Abnormality of the kidney Hematuria Dandy-Walker malformation Cerebellar vermis hypoplasia Nephritis Hypoplastic toenails Scaphocephaly Posterior fossa cyst Sparse scalp hair Hearing impairment Delayed speech and language development Microdontia Brachydactyly Otitis media Abnormality of the skeletal system Abnormal heart morphology Constipation Feeding difficulties in infancy Abnormal cardiac septum morphology Micrognathia Recurrent otitis media Sagittal craniosynostosis Hyperkeratosis Ptosis Peripheral neuropathy Neurological speech impairment Macrocephaly Short neck Cardiomyopathy Atrial septal defect Delayed myelination Broad philtrum Arnold-Chiari malformation Proptosis Neuropathic arthropathy Low-set, posteriorly rotated ears Pulmonic stenosis Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Hemangioma Bilateral ptosis Absent eyebrow Curly hair Arthropathy Underdeveloped nasal alae Abnormality of finger Metabolic acidosis Cleft lip Hypochromic microcytic anemia Bloody diarrhea Chronic hepatitis Intractable diarrhea Pili canaliculi Uncombable hair Decreased serum iron Midface retrusion Hernia Protruding ear Villous atrophy Single transverse palmar crease Ectropion Bilateral cleft lip Bilateral cleft lip and palate High anterior hairline Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Agenesis of lateral incisor Palate fistula Trichorrhexis nodosa Woolly hair Pain Anemia Thick vermilion border Hypodontia Low anterior hairline Oligodontia Reduced number of teeth Agenesis of permanent teeth Thin eyebrow Growth delay Failure to thrive Hepatomegaly Microcytic anemia Intrauterine growth retardation Diarrhea Immunodeficiency Abnormality of the liver Small for gestational age Cirrhosis Hepatitis Chronic diarrhea Brittle hair Colitis Hyponasal speech Motor delay Hepatic failure Poor head control Mandibular prognathia Muscular hypotonia of the trunk Dysmetria Hirsutism Inability to walk Epileptic encephalopathy Apraxia Low posterior hairline Oculomotor apraxia Mild microcephaly Encephalopathy Thick hair Anteverted ears Muscular hypotonia Cataract Frontal bossing Hypoplasia of the corpus callosum Long philtrum Microphthalmia Acidosis Lactic acidosis Cerebellar hypoplasia Absent speech Intellectual disability, severe Long palpebral fissure Hyperactivity Neonatal hypotonia Blepharophimosis Short philtrum Poor speech Astigmatism Broad nasal tip Language impairment Long fingers Self-mutilation Syndactyly Fair hair Tics Long toe Inappropriate laughter Seizures Ataxia Spasticity Hyperreflexia Cerebellar atrophy Hypertonia Small pituitary gland


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