Epicanthus, and Coarse facial features

Diseases related with Epicanthus and Coarse facial features

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

Top matches:

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

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

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Other less relevant matches:

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Microcephaly Long philtrum Wide nasal bridge Generalized hypotonia Short stature Upslanted palpebral fissure Synophrys Macrocephaly Prominent forehead Wide mouth Low anterior hairline Nystagmus Scoliosis Thick vermilion border Short palpebral fissure Smooth philtrum Retrognathia Ventriculomegaly Growth delay Hepatosplenomegaly Anteverted nares Downslanted palpebral fissures Cognitive impairment Ataxia Low-set ears Low posterior hairline High palate Intellectual disability, mild

Rare Symptoms - Less than 30% cases

Talipes equinovarus Patent ductus arteriosus Skeletal dysplasia Abnormality of the skeletal system Feeding difficulties Frontal bossing Short neck Wide nose Trigonocephaly Narrow palate Conductive hearing impairment Abnormal heart morphology Abnormality of the pinna Hydronephrosis Telecanthus Macroglossia Talipes Short femoral neck Coarctation of aorta Flat acetabular roof Pointed chin Ptosis Thin upper lip vermilion Splenomegaly Hepatomegaly Cerebral atrophy Strabismus Cerebral cortical atrophy Hypoplasia of the corpus callosum Clinodactyly Failure to thrive Growth hormone deficiency Kyphoscoliosis Bulbous nose Delayed eruption of teeth Hypertrichosis Generalized hirsutism Relative macrocephaly Deep philtrum Wide nasal base Hirsutism Delayed speech and language development Attention deficit hyperactivity disorder Inguinal hernia Abdominal pain Omphalocele Ambiguous genitalia Hyperactivity Tetralogy of Fallot Vesicoureteral reflux Postural instability Elevated hepatic transaminase Developmental regression Joint hypermobility Pain High, narrow palate Tapered finger Memory impairment Hoarse voice Sleep apnea Hyperkinesis Postaxial polydactyly Abnormality of the upper urinary tract Astigmatism Cholelithiasis 2-3 toe syndactyly Abnormality of metabolism/homeostasis Small basal ganglia Hypoplastic nipples Spondyloepiphyseal dysplasia Platyspondyly Confusion Short clavicles Anteriorly placed anus Flat face Neurodevelopmental delay Abnormality of the skin Cupped ear Thick lower lip vermilion Infantile muscular hypotonia Metaphyseal irregularity Flared metaphysis Posterior scalloping of vertebral bodies Macrogyria Irregular vertebral endplates Arnold-Chiari malformation Spondyloepimetaphyseal dysplasia Small epiphyses Irregular epiphyses Carpal bone hypoplasia Narrow iliac wings Long fibula Wormian bones Metaphyseal striations Thoracic hypoplasia Optic nerve coloboma Long palpebral fissure Euryblepharon Short columella Transient ischemic attack Webbed neck Specific learning disability Atrial septal defect Pachygyria Ventricular septal defect Palpebral edema Cryptorchidism Large fontanelles Osteochondrosis Prominent nose Cerebral cortical hemiatrophy Retinoschisis Prominent metopic ridge Lissencephaly Mutism Duplication of thumb phalanx Hydroureter Delayed cranial suture closure Aphasia Dysphasia Long nose Renal insufficiency Full cheeks Protuberant abdomen Expressive language delay Episodic abdominal pain Dysostosis multiplex Upper airway obstruction Abnormal cardiac septum morphology Subcortical cerebral atrophy Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Prolonged prothrombin time Long hallux Spinal deformities Micrognathia Depressed nasal tip Echolalia Joint stiffness Thin vermilion border Micropenis Polymicrogyria Heterochromia iridis Polydactyly Iris coloboma Highly arched eyebrow Microcornea Hypogonadism Joint laxity Visual impairment Brachycephaly Ovarian neoplasm Carcinoma Sparse hair Blepharophimosis Prominent nasal bridge Hip dislocation Hypopigmentation of the skin Dental malocclusion Long eyelashes Bone marrow hypocellularity Breast carcinoma Proximal placement of thumb Chromosome breakage Intrauterine growth retardation Thick upper lip vermilion Stomach cancer Macrodontia Duodenal stenosis Ovarian carcinoma Respiratory insufficiency Agenesis of corpus callosum Pes planus Neonatal hypotonia Hypermetropia Poor speech Renal cyst Microphthalmia Anemia Mitral valve prolapse Abnormality of the dentition Severe short stature Hypothyroidism Intellectual disability, moderate Delayed puberty Aspiration Spina bifida Spina bifida occulta Adrenal insufficiency Hypopituitarism Myelomeningocele Panhypopituitarism Macrotia Neoplasm EEG abnormality Thick eyebrow Overgrowth Depressed nasal ridge Gingival overgrowth Widely spaced teeth Peritonitis Gingival fibromatosis Thick nasal alae Generalized hypertrichosis Thoracic kyphoscoliosis Congenital, generalized hypertrichosis Triangular face Renal dysplasia Intellectual disability, severe Recurrent bacterial infections Recurrent infections Thrombocytopenia Pneumonia Recurrent respiratory infections Posteriorly rotated ears Reduced visual acuity Photophobia Respiratory tract infection Carious teeth Neutropenia Hip dysplasia Albinism Motor delay Pulmonary fibrosis Periodontitis Ocular albinism Fair hair Acetabular dysplasia Interstitial pneumonitis Granulocytopenia Congenital neutropenia Intermittent thrombocytopenia Aberrant melanosome maturation Muscular hypotonia Hydrocephalus Immunodeficiency Broad philtrum Flat occiput Spasticity Hypoplastic left heart Delayed ability to walk Inverted nipples Low hanging columella Mitral stenosis Gastrointestinal dysmotility Broad columella Oval face Narrow philtrum Infra-orbital crease Sensorineural hearing impairment Brachydactyly Broad face Cerebellar atrophy Absent speech Hyporeflexia Babinski sign Cerebellar hypoplasia Camptodactyly Autistic behavior Abnormality of the cerebral white matter Inability to walk Neuronal loss in central nervous system Apraxia Dental crowding Gait imbalance


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