Epicanthus, and Cerebellar vermis hypoplasia

Diseases related with Epicanthus and Cerebellar vermis hypoplasia

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

Top matches:

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

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

Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

Other less relevant matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Medium match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE

Top 5 symptoms//phenotypes associated to Epicanthus and Cerebellar vermis hypoplasia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dandy-Walker malformation Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Cerebellar vermis hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Frontal bossing Polydactyly Highly arched eyebrow Molar tooth sign on MRI Ptosis Downslanted palpebral fissures Anteverted nares Seizures Coloboma Ataxia Short stature Muscular hypotonia Posteriorly rotated ears Cerebellar hypoplasia Hypoplasia of the corpus callosum Abnormal facial shape Open mouth Cognitive impairment Renal cyst Hypertelorism Cryptorchidism Feeding difficulties Encephalocele Growth delay Deeply set eye Absent speech Wide nasal bridge Macrocephaly

Rare Symptoms - Less than 30% cases

Postaxial hand polydactyly Kyphoscoliosis Apraxia Retinal dystrophy Visual impairment High palate Oculomotor apraxia Nystagmus Cataract Short distal phalanx of finger Hearing impairment Central apnea Long philtrum High forehead Occipital encephalocele Abnormality of eye movement Prominent nasal bridge Optic atrophy Ventriculomegaly Abnormality of the eye Microphthalmia Aggressive behavior Abnormal heart morphology Strabismus Enlarged fossa interpeduncularis Neonatal breathing dysregulation Elongated superior cerebellar peduncle Episodic tachypnea Autistic behavior Hyperactivity Abnormality of the kidney Ventricular septal defect Behavioral abnormality Abnormality of the foot Malar flattening Breathing dysregulation Downturned corners of mouth Prominent forehead Polymicrogyria Short phalanx of finger Depressed nasal bridge Postaxial polydactyly Thick vermilion border Mandibular prognathia Autism Abnormality of skin pigmentation Sparse eyebrow Delayed speech and language development Protruding tongue Self-mutilation Hypoplasia of the brainstem Chorioretinal coloboma Abnormal pattern of respiration Tachypnea Recurrent respiratory infections Coarse facial features Cerebral atrophy Hepatic fibrosis Neonatal hypotonia Macroglossia Abnormality of the nervous system Heterotopia Respiratory tract infection Hyporeflexia Impaired smooth pursuit Retinal dysplasia Microcephaly Abnormal saccadic eye movements Meningoencephalocele Abnormality of ocular smooth pursuit Telecanthus Dysgenesis of the cerebellar vermis Brainstem dysplasia Hemifacial spasm Occipital myelomeningocele Narrow forehead Sensorineural hearing impairment Blindness Apnea Peripheral neuropathy Tremor Long face Agenesis of cerebellar vermis Camptodactyly of toe Brachydactyly Myopia Optic nerve coloboma Respiratory distress Triangular-shaped open mouth Infantile spasms Wide mouth Short ribs Pulmonary hypoplasia Short palm Wide nose Short foot Abdominal distention Hypoplasia of penis Ambiguous genitalia Renal hypoplasia Abnormality of the metaphysis Omphalocele Hydrops fetalis Disproportionate short-limb short stature Micromelia Preaxial hand polydactyly Short thorax Facial cleft Esophageal atresia Ectopic anus Bifid tongue Congenital hepatic fibrosis Lethal skeletal dysplasia Uterus didelphys Bifid epiglottis Absent or minimally ossified vertebral bodies Abnormal pelvis bone ossification Cleft upper lip Anal atresia Nail dystrophy Abnormality of the fingernails Bulbous nose Everted lower lip vermilion Polyneuropathy Prominent nose Nail dysplasia Abnormality of the skin Renal agenesis Bilateral sensorineural hearing impairment High myopia Hypsarrhythmia Small nail Abnormal dermatoglyphics Narrow chest Triphalangeal thumb Anonychia Decreased hip abduction Severe sensorineural hearing impairment Hypoplasia of the iris Cystic renal dysplasia Prominent nasal tip Profound sensorineural hearing impairment Respiratory insufficiency Abnormality of cardiovascular system morphology Agenesis of corpus callosum Hydronephrosis Ulnar deviation of the hand or of fingers of the hand Flexion contracture Abnormality of the rib cage Abnormality of the liver Sleep disturbance Gingival overgrowth Widely spaced teeth Schizophrenia Obsessive-compulsive behavior Neurodevelopmental delay Long nose Facial hypotonia Spasticity Renal insufficiency Stage 5 chronic kidney disease Smooth philtrum Pigmentary retinopathy Renal dysplasia Truncal ataxia Abnormal electroretinogram Nephronophthisis Delayed ability to walk Retinal coloboma Hypertension Hydrocephalus Intellectual disability, severe Thick eyebrow Broad forehead Irritability Abnormality of the dentition Motor delay Recurrent infections Rod-cone dystrophy EEG abnormality Feeding difficulties in infancy Hirsutism Intellectual disability, profound Deep philtrum Enlarged cisterna magna Infra-orbital crease Proteinuria Anxiety Craniosynostosis Sparse hair Hematuria Ectodermal dysplasia Sparse eyelashes Trigonocephaly Nephritis Hypoplastic toenails Scaphocephaly Tubulointerstitial nephritis Posterior fossa cyst Pneumonia Short philtrum Down-sloping shoulders Interphalangeal joint contracture of finger Arthrogryposis multiplex congenita Ophthalmoplegia Facial asymmetry Talipes Single transverse palmar crease Triangular face Bifid uvula Limitation of joint mobility Webbed neck Lumbar hyperlordosis Abnormal vertebral morphology Camptodactyly of finger Congenital hip dislocation Knee flexion contracture Pterygium Overlapping toe Bilateral talipes equinovarus Decreased muscle mass Cutaneous finger syndactyly Submucous cleft hard palate Distal arthrogryposis Thoracolumbar scoliosis Finger syndactyly Retinopathy Tented upper lip vermilion Vesicoureteral reflux Meningocele Multiple renal cysts Morning glory anomaly Dysarthria Intrauterine growth retardation Hypospadias Gastroesophageal reflux Low-set, posteriorly rotated ears Postnatal growth retardation Blepharophimosis Cerebral visual impairment Protruding ear Broad eyebrow Scoliosis Cleft palate Talipes equinovarus Short neck Intellectual disability, mild Syndactyly Pectus excavatum Clinodactyly of the 5th finger Camptodactyly Hyperlordosis Urethrovaginal fistula


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