Microcephaly, and Abnormality of skin pigmentation

Diseases related with Microcephaly and Abnormality of skin pigmentation

In the following list you will find some of the most common rare diseases related to Microcephaly and Abnormality of skin pigmentation that can help you solving undiagnosed cases.

Top matches:

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.

XERODERMA PIGMENTOSUM VARIANT Is also known as xeroderma pigmentosum with normal dna repair rates|photosensitivity with defective dna synthesis|xpv

Related symptoms:

  • Microcephaly
  • Growth delay
  • Photophobia
  • Dry skin
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM VARIANT

Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 3; BMFS3

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by Bogliolo et al., 2013).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Top 5 symptoms//phenotypes associated to Microcephaly and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypopigmentation of the skin Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Bone marrow hypocellularity Abnormal facial shape Low-set ears Seizures Spasticity

Rare Symptoms - Less than 30% cases

Neoplasm Brachydactyly Generalized hypotonia Absent speech Chromosome breakage Tremor Pancytopenia Paraplegia Cerebral calcification Joint laxity Intrauterine growth retardation Visual impairment Hypertonia Ataxia Sparse hair Anemia Telangiectasia Cutaneous photosensitivity Hyperpigmentation of the skin Intellectual disability, profound Osteopenia High forehead Biliary atresia Proptosis Severe short stature Recurrent infections Scoliosis Failure to thrive Anteverted nares Fine hair Talipes equinovarus Midface retrusion Constipation Frontal bossing Depressed nasal bridge Alopecia Cerebellar hypoplasia Oral leukoplakia CNS hypomyelination Nail dystrophy Small for gestational age Carious teeth Telecanthus Hypoplasia of the corpus callosum Talipes Hyperreflexia Motor deterioration Lack of skin elasticity Hypopigmentation of hair Self-injurious behavior Hemiplegia Eczema Memory impairment Nausea and vomiting Attention deficit hyperactivity disorder Mental deterioration Autism Depressivity Behavioral abnormality Intellectual disability, severe Cataract Short distal phalanx of finger Esophageal atresia Sparse and thin eyebrow Hypopigmented skin patches Profound global developmental delay Spotty hypopigmentation Anisopoikilocytosis Hearing impairment Hyperactivity Cortical dysplasia Aggressive behavior Autistic behavior Dyskinesia Ventricular hypertrophy Broad-based gait Precocious puberty Red hair Clonus Absent thumb Cutaneous melanoma Thin upper lip vermilion Narrow mouth Short nose Motor delay Acute myeloid leukemia Myeloid leukemia Microdontia Hypodontia Retinal dystrophy Leukemia Hyperkeratosis Dysphagia Freckles in sun-exposed areas Entropion Neonatal hypotonia Poikiloderma Basal cell carcinoma Squamous cell carcinoma Keratitis Ectropion Dermal atrophy Melanoma Conjunctivitis Dry skin Photophobia Chromosomal breakage induced by ionizing radiation Hypermetropia Immunodeficiency Deeply set eye Abnormal cardiac septum morphology Cafe-au-lait spot Progressive neurologic deterioration Scarring Limb tremor Loss of ability to walk Moderate global developmental delay Generalized dystonia Loss of speech Progressive spastic paraplegia Freckling Ankle clonus Toe walking Leukodystrophy Lower limb spasticity Frequent falls Hemolytic anemia Unsteady gait Falls Spastic paraplegia Skin rash Developmental regression Abnormality of the nervous system Rigidity Babinski sign Dystonia Nystagmus Hyperplasia of the maxilla Sandal gap Inability to walk Flat face Hyperphenylalaninemia


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