Abnormal facial shape, and Astigmatism

Diseases related with Abnormal facial shape and Astigmatism

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


Top matches:

Low match STICKLER SYNDROME, TYPE IV; STL4


Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE IV; STL4

Low match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Low match FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION


Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011).Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).

FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION Is also known as nasolacrimal duct obstruction|lacrimal puncta, absence of

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Respiratory distress
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

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Other less relevant matches:

Low 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

Low match AUTOSOMAL RECESSIVE STICKLER SYNDROME


Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Low match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Low match RAHMAN SYNDROME; RMNS


Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Low match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Low match SOTOS SYNDROME 2; SOTOS2


SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Low 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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Astigmatism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypermetropia Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Hydrocephalus Ventriculomegaly Nystagmus Broad forehead Generalized hypotonia Delayed speech and language development Myopia Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Scaphocephaly Long fingers Mandibular prognathia Cleft palate Neonatal hypotonia Amblyopia Accelerated skeletal maturation Deeply set eye Overgrowth Intellectual disability, severe Depressed nasal bridge Motor delay Full cheeks Short stature Agenesis of corpus callosum Epiphyseal dysplasia Retinal detachment Sensorineural hearing impairment Coloboma Flat face Genu valgum Seizures Cataract Vitreoretinopathy Hypotelorism Depressivity Coarse facial features Pointed chin Dolichocephaly Psychosis Optic atrophy Celiac disease Cyclopia Abnormality of the musculature Single median maxillary incisor Proboscis Small posterior fossa Cognitive impairment Curved fingers Megalencephaly Nevus Talipes Camptodactyly Telecanthus Kyphoscoliosis Abnormality of the dentition Hypertonia Talipes equinovarus Esophoria Abnormal CNS myelination Dilation of lateral ventricles Limb hypertonia Patellar dislocation Abnormality of digit Patellar subluxation Microphthalmia Microcephaly Ptosis High palate Abnormality of the skeletal system Anteverted nares Short nose Midface retrusion Cutis marmorata Upslanted palpebral fissure Macrotia Exotropia Synophrys Oral cleft Microcornea Advanced eruption of teeth Coxa valga Facial cleft High forehead Narrow forehead Cortical tubers Adrenal medullary hypoplasia Scoliosis Pectus excavatum Narrow mouth Anxiety Narrow face Absent thumb Trigonocephaly Long face Deep philtrum Progressive spastic paraplegia Holoprosencephaly Everted lower lip vermilion Partial agenesis of the corpus callosum Irregular vertebral endplates Delayed gross motor development Nasal obstruction Erythema Sinusitis Conjunctivitis Epiphora Cellulitis Chronic sinusitis Periorbital edema Respiratory distress Nasolacrimal duct obstruction Rhinorrhea Lacrimal duct atresia Dacryocystitis Dacryocystocele Pain Recurrent infections Molar tooth sign on MRI Hyperactivity Rod-cone dystrophy High myopia Severe sensorineural hearing impairment Flat capital femoral epiphysis Rhegmatogenous retinal detachment Irregular capital femoral epiphysis Degenerative vitreoretinopathy Hepatosplenomegaly Hepatic fibrosis Intellectual disability, moderate Abnormality of the eye Abnormality of eye movement Retinal dystrophy Cerebellar vermis hypoplasia Encephalocele Wide nasal bridge Thin upper lip vermilion Plagiocephaly Reduced visual acuity Hearing impairment Hyperreflexia Hypoplasia of the corpus callosum Cerebral atrophy Obesity Prominent forehead Polyhydramnios Joint hyperflexibility Muscular hypotonia of the trunk Spastic paraplegia Paraplegia Delayed myelination Esotropia Optic disc pallor Abnormality of epiphysis morphology Platyspondyly Wide mouth Narrow palpebral fissure Sparse hair Blepharophimosis Short philtrum Poor speech Broad nasal tip Fine hair Language impairment Malar flattening Long palpebral fissure Self-mutilation Fair hair Tics Long toe Inappropriate laughter Micrognathia Exencephaly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Skeletal dysplasia, related diseases and genetic alterations Dysarthria and Sparse hair, related diseases and genetic alterations Lymphoma and Cutaneous photosensitivity, related diseases and genetic alterations Cognitive impairment and Astigmatism, related diseases and genetic alterations Cleft palate and Narrow mouth, related diseases and genetic alterations

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