Hypertelorism, and Coarse facial features

Diseases related with Hypertelorism and Coarse facial features

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

Top matches:

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Other less relevant matches:

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

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

Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Top 5 symptoms//phenotypes associated to Hypertelorism and Coarse facial features

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Coarse facial features. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus Highly arched eyebrow High palate Microcephaly Scoliosis Ptosis Macrocephaly Thick eyebrow Intellectual disability, mild Abnormality of the skeletal system Abnormal facial shape Spasticity Synophrys

Rare Symptoms - Less than 30% cases

Babinski sign Bulbous nose Low-set ears Delayed speech and language development Absent speech Spastic paraplegia Atrial septal defect Short neck Flexion contracture Short nose Anteverted nares Hypertonia Neonatal hypotonia Intellectual disability, severe Hyperreflexia Downslanted palpebral fissures Blepharophimosis Everted lower lip vermilion Motor delay Long philtrum Cryptorchidism Ventricular septal defect Strabismus Wide nasal bridge Intellectual disability, moderate Thick lower lip vermilion Hernia Mandibular prognathia Polyhydramnios Premature birth Umbilical hernia Abnormal cardiac septum morphology Hypoplastic philtrum Round face Developmental regression Aggressive behavior Autism Deeply set eye Everted upper lip vermilion Deep philtrum Narrow palpebral fissure Tall stature Overgrowth Short columella Maternal diabetes Premature rupture of membranes Long palpebral fissure Behavioral abnormality Kyphosis Midface retrusion Upslanted palpebral fissure Brachycephaly Hyperactivity Dandy-Walker malformation Facial hypotonia Cerebellar vermis hypoplasia Talipes Hearing impairment Talipes equinovarus Muscular hypotonia of the trunk Apnea Wide mouth Short philtrum Paraplegia Thick vermilion border Esodeviation Tetraplegia Prominent nose Focal-onset seizure Febrile seizures Spastic tetraplegia Cerebral palsy Spastic diplegia Flexion contracture of thumb Oxycephaly Mild microcephaly Retrognathia Duplication of thumb phalanx Nystagmus Hyporeflexia Loss of ability to walk Agenesis of corpus callosum Micropenis Overlapping toe Joint stiffness Visceromegaly Small hand Holoprosencephaly Increased intracranial pressure Adducted thumb Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Hemolytic-uremic syndrome Sparse eyebrow Broad-based gait Large hands Tapered finger Macroglossia Sloping forehead Thickened skin Gingival overgrowth Abnormality of the metacarpal bones Long nose Micrognathia Palpebral edema Craniofacial hyperostosis Abnormality of the tongue Thick nasal alae Abnormal lip morphology Growth delay Cataract Joint hyperflexibility Panhypopituitarism Macrotia Severe short stature Prominent forehead Kyphoscoliosis Small for gestational age Broad nasal tip Dental crowding Long foot Epicanthus Hypothyroidism Myelomeningocele Delayed puberty Growth hormone deficiency Aspiration Spina bifida Spina bifida occulta Adrenal insufficiency Hypopituitarism Cerebellar atrophy Thin upper lip vermilion Hemiparesis Tremor Hemangioma Bilateral ptosis Absent eyebrow Curly hair Arthropathy Neuropathic arthropathy Hypertension Diarrhea Mitral valve prolapse Constipation Gastroesophageal reflux Proteinuria Poor speech Hematuria Intestinal malrotation Status epilepticus Fine hair Ichthyosis Congenital cataract Cardiomyopathy Smooth philtrum Tetraparesis Rhizomelia Spastic tetraparesis Progressive spastic quadriplegia Peripheral neuropathy Myopia Posteriorly rotated ears Peripheral axonal neuropathy Hyperkeratosis Proptosis High forehead Low-set, posteriorly rotated ears Sparse hair Broad forehead Pulmonic stenosis Simple febrile seizures


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