Abnormal facial shape, and Abnormality of the cerebral white matter

Diseases related with Abnormal facial shape and Abnormality of the cerebral white matter

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


Top matches:

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6

Primary coenzyme Q10 deficiency-6 is an autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis (FSGS). Some patients may show a favorable response to oral coenzyme Q supplementation (summary by Heeringa et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ) and NPHS1 (OMIM ).

COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: UMLS MONDO OMIM ORPHANET

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6

Low match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Motor delay


SOURCES: OMIM UMLS MONDO

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Low match OROFACIODIGITAL SYNDROME XV; OFD15

OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as ofds xv, oral-facial-digital syndrome, type xv

Related symptoms:

  • Autosomal recessive inheritance
  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Anteverted nares


SOURCES: UMLS MONDO OMIM

More info about OROFACIODIGITAL SYNDROME XV; OFD15

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Other less relevant matches:

Low match CHUDLEY-MCCULLOUGH SYNDROME; CMCS

Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011).

CHUDLEY-MCCULLOUGH SYNDROME; CMCS Is also known as deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts, deafness, autosomal recessive 82, formerly;dfnb82, formerly;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: MONDO OMIM GARD MESH UMLS ORPHANET

More info about CHUDLEY-MCCULLOUGH SYNDROME; CMCS

Low match LISSENCEPHALY 1; LIS1

Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly sequence, isolated;ils, lissencephaly, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about LISSENCEPHALY 1; LIS1

Low match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Abnormal facial shape


SOURCES: DOID UMLS MONDO OMIM

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

Low match DISTAL MONOSOMY 1Q

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as distal deletion 1q; monosomy 1qter; telomeric deletion 1q

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET

More info about DISTAL MONOSOMY 1Q

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Related symptoms:

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


SOURCES: DOID MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Low match JOUBERT SYNDROME 9; JBTS9

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape


SOURCES: OMIM

More info about JOUBERT SYNDROME 9; JBTS9

Low match LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY

Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY Is also known as ;clwm

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: MONDO ORPHANET OMIM SCTID UMLS MESH GARD

More info about LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of the cerebral white matter

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of the cerebral white matter. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Agenesis of corpus callosum Hypoplasia of the corpus callosum Spasticity Nystagmus Infantile onset Heterotopia Sensorineural hearing impairment Hearing impairment Motor delay

Rare Symptoms - Less than 30% cases


Postnatal microcephaly Partial agenesis of the corpus callosum Molar tooth sign on MRI Hypertelorism Cerebellar vermis hypoplasia Hydrocephalus Strabismus Generalized hypotonia Cerebellar hypoplasia Lissencephaly Pachygyria Delayed speech and language development Polymicrogyria Severe global developmental delay Cognitive impairment Ataxia Visual impairment Nephrotic syndrome Prominent forehead Feeding difficulties Aplasia/Hypoplasia of the corpus callosum Round face Thin vermilion border Abnormality of the nervous system Smooth philtrum Retinal detachment Constipation Optic nerve hypoplasia Retinal fold Depressed nasal bridge Low-set ears Micrognathia Retinal atrophy Short stature Chorioretinal atrophy Retinal dysplasia Chorioretinal dysplasia Congenital microcephaly Epicanthus Coloboma Absent speech Cephalocele Nonprogressive encephalopathy Abnormal CNS myelination Focal white matter lesions Abnormal myelination Progressive encephalopathy Leukoencephalopathy Athetosis Cerebral calcification Poor speech Acrania Slow progression Encephalopathy Dystonia Hepatic fibrosis Gastroesophageal reflux Encephalocele Retinal dystrophy Astigmatism Abnormality of eye movement Reduced visual acuity Abnormality of the eye Hepatosplenomegaly Intellectual disability, moderate Rod-cone dystrophy Splenomegaly Cataract Ectodermal dysplasia EEG abnormality Macrotia Focal seizures Retrognathia Wide nasal bridge Oxycephaly Dilatation Intellectual disability, mild Macrocephaly Lobulated tongue Broad hallux Postaxial polydactyly Flat face Hydronephrosis Polydactyly Anteverted nares Dilation of lateral ventricles Bilateral sensorineural hearing impairment Limb hypertonia Cortical gyral simplification Sloping forehead Hypertonia Hyperreflexia Diffuse mesangial sclerosis Rapidly progressive Focal segmental glomerulosclerosis Glomerulosclerosis Proteinuria Renal insufficiency Skin rash Cortical dysplasia Congenital onset Tetraplegia Microphthalmia Downslanted palpebral fissures Type I lissencephaly Perivascular spaces Mild global developmental delay Progressive spasticity Hypoplasia of the brainstem Focal seizures with impairment of consciousness or awareness Spastic tetraparesis Absence seizures Febrile seizures Abnormal cerebellum morphology Congenital sensorineural hearing impairment Sepsis Sporadic Muscular hypotonia of the trunk Myoclonus Large foramen magnum Gray matter heterotopias Dysplastic corpus callosum Prelingual sensorineural hearing impairment Colpocephaly Cerebellar dysplasia Severe sensorineural hearing impairment Arachnoid cyst Doll-like facies



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Downslanted palpebral fissures and Facial asymmetry, related diseases and genetic alterations Abnormality of the skeletal system and Finger syndactyly, related diseases and genetic alterations Delayed speech and language development and Dilated cardiomyopathy, related diseases and genetic alterations Hydrocephalus and Platyspondyly, related diseases and genetic alterations Cataract and Cryptorchidism, related diseases and genetic alterations