Downslanted palpebral fissures, and Sparse hair

Diseases related with Downslanted palpebral fissures and Sparse hair

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


Top matches:

High match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13


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

High match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


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

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Other less relevant matches:

High match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


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

High match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


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

High match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


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

High match COFFIN-SIRIS SYNDROME 7; CSS7


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

High match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

High match NOONAN SYNDROME 6; NS6


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

High match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Sparse hair

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Sparse hair. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Short stature Abnormal facial shape Wide nasal bridge Sparse eyelashes Strabismus Broad forehead High forehead Ptosis Low-set ears Microcephaly Sparse eyebrow Hearing impairment Craniosynostosis Micrognathia

Rare Symptoms - Less than 30% cases


Fine hair Tented upper lip vermilion Cataract High palate Pulmonic stenosis Feeding difficulties Prominent forehead Scoliosis Anteverted nares Hypoplasia of the corpus callosum Cognitive impairment Sparse scalp hair Posteriorly rotated ears Coarse facial features Bilateral ptosis Myopia Curly hair Abnormal cardiac septum morphology Trigonocephaly Delayed speech and language development Macrocephaly Cardiomyopathy Abnormal heart morphology Hyperkeratosis Cryptorchidism Hypermetropia Motor delay Thin upper lip vermilion Reduced number of teeth Wide mouth Ectodermal dysplasia Cleft palate Wide nose Short philtrum Sagittal craniosynostosis Small pituitary gland Delayed skeletal maturation Intrauterine growth retardation Arnold-Chiari malformation Clinodactyly of the 5th finger Glaucoma Joint hyperflexibility Hip dysplasia Convex nasal ridge Narrow face Broad philtrum Broad nasal tip Recurrent otitis media Thick vermilion border Microdontia Otitis media Thick eyebrow Neurological speech impairment Hypodontia Feeding difficulties in infancy Constipation Clinodactyly Abnormality of the skeletal system Brachydactyly Low anterior hairline Posterior fossa cyst Abnormality of dental enamel Cachexia Sandal gap Broad neck Nevus Microcornea Everted lower lip vermilion Congenital cataract Hydronephrosis Hypospadias Dilatation Kyphosis Ventriculomegaly Spasticity Seizures Juvenile myelomonocytic leukemia Long eyebrows Asymmetry of the thorax Relative macrocephaly Scaphocephaly Cafe-au-lait spot Growth hormone deficiency Webbed neck Leukemia Hypertrophic cardiomyopathy Intellectual disability, mild Edema Sensorineural hearing impairment Growth delay Absent earlobe Abnormality of earlobe Mild global developmental delay Prematurely aged appearance Cone-shaped epiphysis Tubulointerstitial nephritis Dandy-Walker malformation Hypoplastic toenails Short nose Infantile muscular hypotonia Postnatal microcephaly Aciduria Underdeveloped nasal alae Delayed myelination Metabolic acidosis Bulbous nose Hepatic failure Lactic acidosis Deeply set eye Acidosis Microphthalmia Long philtrum Dystonia Hyperactivity Neonatal hypotonia Frontal bossing Blepharophimosis Poor speech Muscular hypotonia Astigmatism Inappropriate laughter Long toe Tics Fair hair Self-mutilation Long palpebral fissure Long fingers Language impairment Adducted thumb Intellectual disability, severe Nephritis Anemia Oligodontia Cerebellar vermis hypoplasia Narrow palpebral fissure Hematuria Abnormality of the kidney Proteinuria Agenesis of permanent teeth Abnormality of the dentition Ventricular septal defect Thin eyebrow Neuropathic arthropathy Arthropathy Absent eyebrow Hemangioma Peripheral neuropathy Mitral valve prolapse Ichthyosis Peripheral axonal neuropathy Midface retrusion Low-set, posteriorly rotated ears Conductive hearing impairment Proptosis Microtia Atresia of the external auditory canal Atrial septal defect Macrocytic anemia Short neck Unilateral cryptorchidism Pain Nevus flammeus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Ventricular hypertrophy, related diseases and genetic alterations

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