Abnormal facial shape, and Abnormality of movement

Diseases related with Abnormal facial shape and Abnormality of movement

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape


SOURCES: UMLS OMIM MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Delayed speech and language development
  • Obesity
  • Severe global developmental delay


SOURCES: MESH MONDO UMLS OMIM

More info about OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Low match MENTAL RETARDATION, X-LINKED 101; MRX101

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: MONDO UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 72; MRX72

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: MONDO MESH OMIM UMLS

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

Low match SOTOS SYNDROME 3; SOTOS3

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Macrocephaly


SOURCES: OMIM UMLS MONDO

More info about SOTOS SYNDROME 3; SOTOS3

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20 Is also known as ;coxpd20

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS MONDO OMIM ORPHANET

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20

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 MENTAL RETARDATION, X-LINKED 19; MRX19

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

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


SOURCES: UMLS MONDO MESH OMIM

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Low match LEFT VENTRICULAR NONCOMPACTION 1; LVNC1

Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle (Sasse-Klaassen et al., 2004). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography (Kurosaki et al., 1999). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. Stollberger et al. (2002) commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC. Genetic Heterogeneity of Left Ventricular NoncompactionA locus for autosomal dominant left ventricular noncompaction has been identified on chromosome 11p15 (LVNC2 ).LVNC3 (see {605906}) is caused by mutation in the LDB3 gene (OMIM ) on chromosome 10q23. LVNC4 (see {613424}) is caused by mutation in the ACTC1 gene (OMIM ) on chromosome 15q14. LVNC5 (see {613426}) is caused by mutation in the MYH7 gene (OMIM ) on chromosome 14q12. LVNC6 (see {601494}) is caused by mutation in the TNNT2 gene (OMIM ) on chromosome 1q32. LVNC7 (OMIM ) is caused by mutation in the MIB1 gene (OMIM ) on chromosome 18q11. LVNC8 (OMIM ) is caused by mutation in the PRDM16 gene (OMIM ) on chromosome 1p36. LVNC9 (see {611878}) is caused by mutation in the TPM1 gene (OMIM ) on chromosome 15q22. LVNC10 (OMIM ) is caused by mutation in the MYBPC3 gene (OMIM ) on chromosome 11p11.LVNC can also occur as part of an X-linked disorder, Barth syndrome (OMIM ), caused by mutation in the TAZ gene (OMIM ) on chromosome Xq28.

LEFT VENTRICULAR NONCOMPACTION 1; LVNC1 Is also known as left ventricular noncompaction 1 with or without congenital heart defects;lvnc; left ventricular hypertrabeculation; spongy myocardium

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Abnormal facial shape
  • Milia
  • Tics


SOURCES: UMLS OMIM MONDO ORPHANET

More info about LEFT VENTRICULAR NONCOMPACTION 1; LVNC1

Low match MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS Is also known as morm syndrome;intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome; mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cataract


SOURCES: ORPHANET GARD SCTID UMLS MONDO OMIM MESH

More info about MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of movement

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Long face Tics Hyperactivity Generalized hypotonia Obesity Microcephaly Infantile onset

Rare Symptoms - Less than 30% cases


Autosomal dominant inheritance X-linked recessive inheritance Macrocephaly Poor speech Cognitive impairment Pica Motor delay Myoclonus Oxycephaly Intellectual disability, moderate Stereotypy Autism Severe global developmental delay Respiratory distress Ventricular septal defect Arrhythmia Congestive heart failure Milia X-linked dominant inheritance Long foot Dental crowding Tachycardia Thick lower lip vermilion Broad nasal tip Small for gestational age Kyphoscoliosis Coarse facial features Prominent forehead Patent ductus arteriosus Bundle branch block Sudden cardiac death Left bundle branch block Truncal obesity Retinal dystrophy Polydactyly Micropenis Visual impairment Cataract Left ventricular noncompaction cardiomyopathy Permanent atrial fibrillation Left ventricular noncompaction Mitral regurgitation Concave nasal ridge Right bundle branch block Hypoplastic left heart Ventricular arrhythmia Atrioventricular block Ventricular tachycardia Atrial fibrillation Left ventricular hypertrophy Intellectual disability, mild Sloping forehead Hypertelorism Absent speech Relative macrocephaly Accelerated skeletal maturation Prominent nose Mandibular prognathia Dolichocephaly Protruding ear Macrotia Congenital onset Ptosis Strabismus Anterior plagiocephaly Overweight Polyphagia Facial asymmetry Clonus Dystonia Tremor Ataxia Muscle weakness Scoliosis Pachygyria Short stature Dilation of lateral ventricles Limb hypertonia Cortical gyral simplification Partial agenesis of the corpus callosum Lissencephaly Heterotopia Polymicrogyria Ophthalmoplegia Agenesis of corpus callosum Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Hyperreflexia Spasticity Progressive external ophthalmoplegia External ophthalmoplegia Childhood-onset truncal obesity



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