Abnormal facial shape, and Thick eyebrow

Diseases related with Abnormal facial shape and Thick eyebrow

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Wide nasal bridge
  • Coarse facial features
  • Deeply set eye


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Other less relevant matches:

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

Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA 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

Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS 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

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Thick eyebrow

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Synophrys Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Generalized hypotonia Scoliosis Mandibular prognathia Deep philtrum Gingival overgrowth Hypertrichosis Bulbous nose Highly arched eyebrow Global developmental delay Thick vermilion border

Rare Symptoms - Less than 30% cases

Low-set ears Hyperactivity Tapered finger Thick nasal alae Macrocephaly Downslanted palpebral fissures Myopia Aggressive behavior Delayed skeletal maturation EEG abnormality Brachycephaly Delayed eruption of teeth Overgrowth Delayed speech and language development High palate Widely spaced teeth Microcephaly Long face Hydrocephalus Epicanthus Abnormality of the dentition Everted lower lip vermilion Macroglossia Upslanted palpebral fissure Long eyelashes Depressed nasal ridge Hirsutism Kyphosis Hearing impairment Wide nasal bridge Deeply set eye Blepharophimosis Short neck Hernia Polyhydramnios Umbilical hernia Atrial septal defect Postnatal microcephaly Anteverted nares Abnormal cardiac septum morphology Ventricular septal defect Congenital, generalized hypertrichosis Generalized hypertrichosis Thoracic kyphoscoliosis Premature birth Wide nasal base Gingival fibromatosis Peritonitis Progressive microcephaly Relative macrocephaly Generalized hirsutism Low anterior hairline Wide mouth Decreased muscle mass Kyphoscoliosis Macrotia Cognitive impairment Round face Long palpebral fissure Tall stature Dolichocephaly Babinski sign Hypoplasia of the corpus callosum Talipes equinovarus Hyperreflexia Spasticity Duplication of thumb phalanx Mild microcephaly Cerebellar vermis hypoplasia Dandy-Walker malformation Posteriorly rotated ears Developmental regression Muscular hypotonia of the trunk Joint laxity Nonprogressive visual loss Talipes Narrow palpebral fissure Ptosis Pes cavus Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Hypsarrhythmia Prominent nose Unsteady gait Behavioral abnormality Short nose Midface retrusion Absent speech Brain atrophy Autism Ataxia Reduced visual acuity Hyposegmentation of neutrophil nuclei Osteopenia Long nose Palpebral edema Craniofacial hyperostosis Abnormality of the tongue Abnormal lip morphology Dilatation Skeletal dysplasia Abnormality of the metacarpal bones Platyspondyly Arachnodactyly Short palm Hypoplasia of the maxilla Microdontia Mitral valve prolapse Large hands Thickened skin Oligodontia Widow's peak Prominent supraorbital ridges Sensorineural hearing impairment Joint hypermobility Underdeveloped nasal alae Small nail Anonychia Bifid nasal tip Thick lower lip vermilion Broad eyebrow Prominent nasal septum Micrognathia Intellectual disability, mild Joint hyperflexibility Sloping forehead Hypoplasia of dental enamel Reduced number of teeth Blue cone monochromacy Progressive visual loss Hypermetropia Facial asymmetry Micromelia Thin vermilion border Small hand Single transverse palmar crease Narrow forehead Proptosis Fine hair Sandal gap Cutis laxa Dyschromatopsia Achromatopsia Prominent glabella Postnatal growth retardation Syndactyly Aortic aneurysm Narrow vertebral interpedicular distance Agenesis of permanent teeth Amelogenesis imperfecta Large forehead Selective tooth agenesis Thoracic aortic aneurysm Abdominal aortic aneurysm Intervertebral space narrowing Long philtrum Herniation of intervertebral nuclei Growth delay Strabismus Muscular hypotonia Brachydactyly Optic atrophy Blindness Delayed ability to walk


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