Epicanthus, and Craniosynostosis

Diseases related with Epicanthus and Craniosynostosis

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

Top matches:

Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Low match 3MC SYNDROME

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

Other less relevant matches:

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

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

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2 ), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).

AUTOSOMAL RECESSIVE OMODYSPLASIA Is also known as omodysplasia, generalized form|micromelic dysplasia-dislocation of radius syndrome|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE OMODYSPLASIA

Top 5 symptoms//phenotypes associated to Epicanthus and Craniosynostosis

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Depressed nasal bridge Abnormal facial shape Short stature Blepharophimosis Posteriorly rotated ears Downslanted palpebral fissures Umbilical hernia Strabismus Frontal bossing High palate Micrognathia Atrial septal defect Wide nasal bridge Generalized hypotonia Hyperlordosis Telecanthus Microcephaly Ventricular septal defect Short nose

Rare Symptoms - Less than 30% cases

Thoracolumbar scoliosis Scaphocephaly Hearing impairment Pterygium Oral cleft Microtia Hernia Autistic behavior Thin upper lip vermilion Autism Delayed speech and language development Abnormality of the skeletal system Anteverted nares Sagittal craniosynostosis Intrauterine growth retardation Macrocephaly Short neck Dolichocephaly Cryptorchidism Hypotelorism Upslanted palpebral fissure Agenesis of corpus callosum Seizures Skeletal dysplasia Osteopenia Severe short stature Growth delay Long philtrum Malar flattening Abnormality of the kidney Cognitive impairment Obsessive-compulsive behavior Prominent forehead Ectodermal dysplasia Sparse hair Cleft palate Respiratory insufficiency Buphthalmos Esophageal varix Splenic cyst Portal hypertension Enlarged kidney Pancreatic cysts Congenital glaucoma Congenital hypothyroidism Pancreatic hypoplasia Hiatus hernia Cystic renal dysplasia Abnormality of the liver Polycystic kidney dysplasia Recurrent infections Beaking of vertebral bodies Spondyloepimetaphyseal dysplasia Small epiphyses Narrow pelvis bone Short fourth metatarsal Proximal femoral epiphysiolysis Skull asymmetry Thoracic platyspondyly Distal femoral bowing Sensorineural hearing impairment Hypertension Hepatomegaly Splenomegaly Pneumonia Wide anterior fontanel Diabetes mellitus Glaucoma Respiratory failure Hypothyroidism Microphthalmia Cirrhosis Renal cyst Sepsis Hepatitis Bilateral sensorineural hearing impairment Choanal atresia Cholestasis Hepatic fibrosis Syndactyly Cutaneous syndactyly Hypospadias Short tibia Limb undergrowth Abnormality of the metaphysis Rhizomelia Short chin Narrow palpebral fissure Hemangioma Disproportionate short-limb short stature Elbow dislocation Mesomelia Limited elbow extension Dislocated radial head Short humerus Fibular hypoplasia Pulmonary artery stenosis Short columella Micromelia Abnormality of femur morphology Increased nuchal translucency Abnormality of the radius Popliteal pterygium Severe short-limb dwarfism Limited hip movement Limited elbow flexion Axillary pterygium Limited knee extension Increased fibular diameter Limited knee flexion Hypoplastic distal humeri Limited elbow flexion/extension Limited knee flexion/extension Flat face Abnormal heart morphology Hypogonadism Hypoplasia of the brainstem Micropenis Neonatal hypotonia Cleft lip Low-set, posteriorly rotated ears Protruding ear Severe global developmental delay Cleft upper lip Wide nose Intellectual disability, profound Split hand Encephalocele Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Poor head control Diabetes insipidus Abnormality of cardiovascular system morphology Non-midline cleft lip Abnormality of digit Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Semilobar holoprosencephaly Hypernatremia Duplication of thumb phalanx Hypoplasia of the frontal bone Lobar holoprosencephaly Delayed epiphyseal ossification Otitis media Slender long bone Limited pronation/supination of forearm Downturned corners of mouth Highly arched eyebrow Spina bifida occulta Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Epicanthus inversus Caudal appendage Large fleshy ears Prominent coccyx Abnormality of the pinna Pectus excavatum Patent ductus arteriosus Polyhydramnios Hypertrophic cardiomyopathy Leukemia Pulmonic stenosis Webbed neck Mitral valve prolapse Deep philtrum Cystic hygroma Myeloproliferative disorder Hypoplastic nasal bridge Hip dislocation Postnatal growth retardation Atrial septal dilatation Abdominal wall muscle weakness Macrotia Vesicoureteral reflux Overgrowth Plagiocephaly Large for gestational age Neonatal hypoglycemia Multiple renal cysts Fragile nails Hyperinsulinemic hypoglycemia Hemihypertrophy Deep palmar crease Moderate global developmental delay Deep-set nails Posterior fossa cyst Abnormality of the hairline Abnormality of the palpebral fissures Abnormality of the dentition Proteinuria Hematuria Dandy-Walker malformation Cerebellar vermis hypoplasia Sparse eyelashes Trigonocephaly Sparse eyebrow Nephritis Hypoplastic toenails Tubulointerstitial nephritis Juvenile myelomonocytic leukemia Dysplastic pulmonary valve Femoral bowing Tall chin Attention deficit hyperactivity disorder Prominent nasal bridge Long face Joint hypermobility Broad nasal tip Hypertrichosis Recurrent otitis media Hoarse voice Pointed chin Toe walking Hyperventilation Microtia, first degree Failure to thrive Pes planus Motor delay Delayed skeletal maturation Platyspondyly Short palm Thick vermilion border Short metacarpal Increased body weight Coxa vara Tented upper lip vermilion Rocker bottom foot Overlapping toe Short femoral neck Anxiety Narrow mouth Muscular hypotonia Stereotypy Brachycephaly Proptosis Short philtrum Broad forehead Small for gestational age Astigmatism Arachnodactyly Bulbous nose Sleep disturbance Narrow forehead Low posterior hairline Short palpebral fissure Exotropia Hyperactivity Large hands Long fingers Overweight Turricephaly Long foot Flexion contracture Feeding difficulties Brachydactyly Myopia Diarrhea Kyphosis Midface retrusion Constipation Anterolateral radial head dislocation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Cerebral calcification, related diseases and genetic alterations Rod-cone dystrophy and Left ventricular hypertrophy, related diseases and genetic alterations Congestive heart failure and Neoplasm of the pancreas, related diseases and genetic alterations