Epicanthus, and Large fontanelles

Diseases related with Epicanthus and Large fontanelles

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

Top matches:

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome|petty-laxova-wiedemann syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PROGEROID SYNDROME, PETTY TYPE

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Other less relevant matches:

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

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

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Epicanthus and Large fontanelles

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Wide anterior fontanel Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Epicanthus and Large fontanelles. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Generalized hypotonia Frontal bossing Intellectual disability Low-set ears Wide nasal bridge Hypertelorism Depressed nasal bridge Microcephaly Growth delay Triangular face Cataract Osteopenia Downslanted palpebral fissures Scoliosis Seizures Abnormal facial shape Muscular hypotonia Long philtrum Ptosis High forehead

Rare Symptoms - Less than 30% cases

Polymicrogyria Atrial septal defect Hepatomegaly Recurrent infections High palate Feeding difficulties Anteverted nares Abnormality of the liver Elevated long chain fatty acids Renal cyst Enlarged kidney Long nose Microcornea Cystic renal dysplasia Abnormality of the skeletal system Hydrocephalus Prominent nose Brachycephaly Thin vermilion border Deeply set eye Hypoplasia of the maxilla Telecanthus Short neck Webbed neck Sepsis Sensorineural hearing impairment Umbilical hernia Strabismus Cutis laxa Redundant skin Abnormality of the kidney Low-set, posteriorly rotated ears Broad forehead Macrocephaly Hearing impairment Mandibular prognathia Congenital hypothyroidism Bilateral sensorineural hearing impairment Choanal atresia Cerebral cortical atrophy Abnormal liver lobulation Narrow pelvis bone Cholestasis Hepatic fibrosis Polycystic kidney dysplasia Portal hypertension Congenital glaucoma Hiatus hernia Nephrogenic rest Pancreatic hypoplasia Splenic cyst Thoracolumbar scoliosis Esophageal varix Lumbosacral meningocele Buphthalmos Unossified vertebral bodies Sagittal craniosynostosis Nephroblastomatosis Abnormal vertebral segmentation and fusion Pancreatic cysts Absent or minimally ossified vertebral bodies Hepatitis Thin upper lip vermilion Cirrhosis CNS demyelination Peripheral demyelination Decreased fetal movement Decreased body weight Hyperbilirubinemia Cholelithiasis Absent in utero ossification of vertebral bodies Central hypotonia Scaphocephaly Double outlet right ventricle Renal tubular dysfunction Abnormal cortical bone morphology Delayed closure of the anterior fontanelle Periorbital fullness Cranial asymmetry Craniosynostosis Abnormality of the hairline Abnormality of the male genitalia Hypertension Unossified sacrum Splenomegaly Hernia Pneumonia Diabetes mellitus Glaucoma Absent in utero rib ossification Respiratory failure Hypothyroidism Hyperlordosis Retrognathia Joint stiffness Skeletal dysplasia Euryblepharon Protuberant abdomen Vertebral segmentation defect Heterochromia iridis Echolalia Optic nerve coloboma Abnormality of the upper urinary tract Subcortical cerebral atrophy Macrogyria Duplication of thumb phalanx Retinoschisis Cerebral cortical hemiatrophy Osteochondrosis Cleft palate Multiple renal cysts Talipes equinovarus Respiratory insufficiency Thoracic hypoplasia Respiratory distress Short nose Inguinal hernia Short thorax Pulmonary hypoplasia Hammertoe Oligohydramnios Abnormality of the ribs Renal dysplasia Depressed nasal ridge Tracheomalacia Bell-shaped thorax Coarse facial features Mutism Hydronephrosis Small nail Wide mouth Wide nose Iris coloboma Highly arched eyebrow Full cheeks Specific learning disability Low posterior hairline Pachygyria Increased nuchal translucency Pointed chin Lissencephaly Trigonocephaly Depressed nasal tip Hydroureter Delayed cranial suture closure Aphasia Enlarged thorax Disproportionate short-trunk short stature Dysphasia Hypoplastic fingernail Long palpebral fissure Prominent metopic ridge Missing ribs Transient ischemic attack Short columella Myelomeningocele Palpebral edema Macrodontia of permanent maxillary central incisor Hepatic failure Adrenal insufficiency EEG abnormality Developmental regression Severe global developmental delay Dolichocephaly Abnormality of movement Retinal dystrophy High, narrow palate Esotropia Abnormality of retinal pigmentation Decreased liver function Bilateral single transverse palmar creases Abnormal palate morphology Abnormality of neuronal migration Primary adrenal insufficiency Optic atrophy Polar cataract Ventriculomegaly Malar flattening Midface retrusion Agenesis of corpus callosum Prominent forehead Osteoporosis Gastroesophageal reflux Joint laxity Postnatal growth retardation Protruding ear Hip dislocation Joint hypermobility Abnormality of metabolism/homeostasis Hyperreflexia Recurrent fractures Short distal phalanx of finger Posteriorly rotated ears Small for gestational age Broad nasal tip Abnormality of the thyroid gland Epicanthus inversus Metopic synostosis Abnormality of the skull base Absent/hypoplastic paranasal sinuses Premature posterior fontanelle closure Prominent palatine ridges Aplasia/Hypoplasia of the frontal sinuses Sparse hair Thick eyebrow Everted lower lip vermilion Visual impairment Abnormality of the hair Abnormality of the nail Generalized hirsutism Abnormal dermatoglyphics Reduced number of teeth Brittle hair Reduced subcutaneous adipose tissue Lipoatrophy Prematurely aged appearance Decreased skull ossification Shagreen patch Long eyelashes in irregular rows Nystagmus Bulbous nose Hypotelorism Neonatal hypotonia Intellectual disability, severe Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Spasticity Flexion contracture Severe short stature Basal ganglia calcification Congenital cataract Rhizomelia Abnormality of pelvic girdle bone morphology Congenital contracture Short humerus Epiphyseal stippling Irregular vertebral endplates Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Cerebral atrophy Patent ductus arteriosus Elevated hepatic transaminase Narrow nose Hyperostosis Blue sclerae Clinodactyly Bowing of the long bones Congenital hip dislocation Growth abnormality Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Delayed speech and language development Myopia Abnormality of the dentition Syndactyly Microphthalmia Delayed skeletal maturation Abnormality of dental morphology Narrow mouth Toe syndactyly Small hand Short foot Delayed eruption of teeth Dental malocclusion Underdeveloped nasal alae Overgrowth Short palpebral fissure Fine hair Sparse scalp hair Dental crowding Abnormality of dental enamel Sparse eyelashes Intralobar nephroblastomatosis


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