Abnormal facial shape, and Narrow forehead

Diseases related with Abnormal facial shape and Narrow forehead

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Narrow forehead that can help you solving undiagnosed cases.


Top matches:

Medium match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Medium match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Medium match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47


Spastic paraplegia-47 is an autosomal recessive neurodegenerative 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).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Medium match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Medium match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Medium match INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME


Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Medium match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Medium match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Narrow forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Narrow forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Spasticity Short stature Dysarthria Delayed speech and language development Wide nasal bridge High palate Visual impairment Myopia Cerebellar hypoplasia Ptosis Nystagmus Growth delay Muscular hypotonia Ataxia Intellectual disability, severe Dysmetria Cognitive impairment Scoliosis

Rare Symptoms - Less than 30% cases


Syndactyly Hyperreflexia Cerebral visual impairment Absent speech Open mouth Generalized-onset seizure Short neck Optic atrophy Abnormality of the skeletal system Poor speech Anteverted nares Cerebellar atrophy Depressed nasal bridge Gait ataxia Inability to walk Facial hypotonia Hydrocephalus Feeding difficulties Hypoplasia of the corpus callosum Synophrys Tapered finger Hypermetropia Small hand Motor delay Prominent forehead Brachycephaly Ventriculomegaly Low-set ears Postnatal growth retardation Macrocephaly Bulbous nose Epicanthus Strabismus Thin upper lip vermilion Clinodactyly of the 5th finger Obesity Increased head circumference Abnormality of the pinna Cerebral cortical atrophy Congenital muscular torticollis Chronic diarrhea Pyloric stenosis Downslanted palpebral fissures Sandal gap Cutis laxa Dyschromatopsia Achromatopsia Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Frontal bossing Tented upper lip vermilion Diarrhea Hypoglycemia Deeply set eye Hip dislocation Overgrowth Generalized myoclonic seizures Congenital hip dislocation Torticollis Downturned corners of mouth Intrauterine growth retardation Round face Cyclopia Holoprosencephaly Deep philtrum Trigonocephaly Absent thumb Abnormality of digit Facial cleft Scaphocephaly Single median maxillary incisor Proboscis Hypotelorism Small posterior fossa Exencephaly Micrognathia Nephrotic syndrome Esotropia Polymicrogyria Stage 5 chronic kidney disease Arachnodactyly Proteinuria Exotropia Microcornea Congenital hypothyroidism Short nose Underdeveloped supraorbital ridges Malignant hyperthermia Congenital stationary night blindness Abnormality of brain morphology Horizontal eyebrow Large fleshy ears Cerebral atrophy Multifocal cerebral white matter abnormalities Cleft palate Microphthalmia Glomerulosclerosis Midface retrusion Upslanted palpebral fissure Macrotia Progressive visual loss Coloboma Broad forehead Astigmatism Oral cleft Focal segmental glomerulosclerosis Fine hair Paraplegia Single transverse palmar crease Osteopenia Abnormality of neuronal migration Microphallus Agyria Type I lissencephaly Subependymal nodules Tremor Osteoporosis EEG abnormality Spontaneous abortion Unsteady gait Abnormal cerebellum morphology Hip dysplasia Apraxia Status epilepticus Infantile muscular hypotonia Brisk reflexes Lissencephaly Pachygyria Clinodactyly Poor suck Dysphagia Atrial septal defect Pectus carinatum Dolichocephaly Pulmonic stenosis Webbed neck Hyperpigmentation of the skin Mild short stature Heterotopia Thickened helices Intellectual disability, mild Agenesis of corpus callosum Micropenis Muscular hypotonia of the trunk Severe global developmental delay Sloping forehead Intellectual disability, profound Encephalopathy Toe syndactyly Thick eyebrow Blindness Protruding tongue Abnormality of the periventricular white matter Genu recurvatum Excessive salivation Acetabular dysplasia Everted upper lip vermilion Brachydactyly Long philtrum Febrile seizures Delayed skeletal maturation Reduced visual acuity Proptosis Facial asymmetry Micromelia Long face Thin vermilion border Spastic tetraplegia Waddling gait Progressive cerebellar ataxia Talipes equinovarus Chorea Epileptic encephalopathy Diplopia Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Flexion contracture Hypertonia Tetraplegia Dystonia Babinski sign Coarse facial features Pes planus Neonatal hypotonia Wide mouth Short philtrum Spastic paraplegia Minimal change glomerulonephritis



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