Macrocephaly, and Tall stature

Diseases related with Macrocephaly and Tall stature

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 18; AUTS18

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Other less relevant matches:

MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009).For a discussion of genetic heterogeneity of MPPH, see {603387}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Macrocephaly
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Top 5 symptoms//phenotypes associated to Macrocephaly and Tall stature

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Tall stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Overgrowth Autistic behavior Autism Hypertelorism Intellectual disability, mild Abnormal facial shape

Rare Symptoms - Less than 30% cases

Polymicrogyria Strabismus Syndactyly Ventriculomegaly Delayed speech and language development Cryptorchidism Behavioral abnormality Prominent supraorbital ridges Pointed chin Gait ataxia Pes planus Facial asymmetry Polydactyly Absent speech Long face Mandibular prognathia Slender build Prominent forehead Kyphosis Pectus excavatum Intellectual disability, severe Increased intracranial pressure Tetraparesis Inability to walk Hyperostosis Short finger Small nail Sclerotic vertebral endplates Talipes equinovarus Hypertonia Cutaneous finger syndactyly Facial palsy Nail dysplasia Dental malocclusion Midface retrusion Abnormality of the skeletal system Gait disturbance Hearing impairment Febrile seizures Abnormal palmar dermatoglyphics Abnormality of the foot Microtia Proptosis Posteriorly rotated ears Abnormality of the dentition Neonatal hypotonia Kyphoscoliosis Visual impairment Epileptic encephalopathy Difficulty walking Hypsarrhythmia Clinodactyly Encephalopathy Dental crowding Gingival overgrowth Cerebral visual impairment Sandal gap Cerebral atrophy Focal impaired awareness seizure Self-injurious behavior Curved fingers Developmental regression Immunodeficiency Amblyopia Nevus Full cheeks Flat occiput Global brain atrophy Epileptic spasms Small earlobe Astigmatism Talipes Camptodactyly Telecanthus Accelerated skeletal maturation Muscle weakness Epicanthus Atrial septal defect Postaxial hand polydactyly Hydrocephalus Hypoplasia of the corpus callosum Cupped ear Triangular face Protruding ear Macrotia Muscular hypotonia Sleep disturbance Wide nose Anxiety Constipation Downslanted palpebral fissures Cutis marmorata Long foot Abnormality of the musculature Abnormality of the sternum Nasal speech Growth abnormality Narrow face Hypoplasia of the maxilla Arachnodactyly Narrow chest Prominent nasal bridge Pectus carinatum High palate Hyperextensible skin Megalencephaly Motor delay Short stature Retrocerebellar cyst Short upper lip Facial hypotonia Narrow palate Short philtrum Distal muscle weakness Aggressive behavior Deeply set eye Brachycephaly Myoclonus Hyporeflexia Scoliosis Elongated superior cerebellar peduncle Capillary malformation Molar tooth sign on MRI Large for gestational age Oculomotor apraxia Cerebellar vermis hypoplasia Apraxia Abnormal cerebellum morphology Postaxial polydactyly Dysarthria Depressed nasal bridge Nystagmus Ataxia Hemimegalencephaly Obtundation status


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