Microcephaly, and Hypopigmentation of the skin

Diseases related with Microcephaly and Hypopigmentation of the skin

In the following list you will find some of the most common rare diseases related to Microcephaly and Hypopigmentation of the skin 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Other less relevant matches:

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

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

Low match PIEBALDISM

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

PIEBALDISM Is also known as piebaldism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PIEBALDISM

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Top 5 symptoms//phenotypes associated to Microcephaly and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape White hair Anemia Hearing impairment Hypopigmented skin patches Cataract Hyperreflexia Spasticity

Rare Symptoms - Less than 30% cases

Spotty hypopigmentation Hypopigmentation of hair Seizures Muscular hypotonia Tremor Vitiligo Unsteady gait Horseshoe kidney Behavioral abnormality Cafe-au-lait spot Nystagmus Brachydactyly Motor delay Paraplegia Blepharophimosis Generalized hypotonia Gait disturbance Basal cell carcinoma Micrognathia Telangiectasia Squamous cell carcinoma Carcinoma Polymicrogyria Finger syndactyly Toe syndactyly Facial asymmetry Cryptorchidism Nonprogressive cerebellar ataxia Short palpebral fissure Saccadic smooth pursuit Dilated fourth ventricle Coloboma Abnormality of the retinal vasculature Hirsutism Iris coloboma Generalized hypopigmentation Microcornea Intestinal malrotation Abnormality of the skeletal system Brachycephaly Thrombocytopenia Pelvic kidney Pancytopenia Bulbous nose Short thumb Bone marrow hypocellularity Abnormality of the skin Absent thumb Absent radius Abnormality of the kidney Craniosynostosis Squamous cell carcinoma of the tongue Hypertelorism Ptosis Ventriculomegaly Syndactyly Microphthalmia Agenesis of corpus callosum Polydactyly Hypoplasia of the radius Preaxial hand polydactyly Broad thumb Abnormality of the genitourinary system Lower limb muscle weakness Sepsis Nevus Sensory impairment Waddling gait Febrile seizures Spastic gait Narrow face Paraparesis Spastic paraparesis Bowel incontinence Hip dislocation Premature graying of hair Axonal degeneration Progressive spastic paraplegia Progeroid facial appearance Progressive spastic paraparesis Multiple lentigines Flexion contracture of toe Bowel urgency Silver-gray hair Hyperpigmented nevi Hyperpigmentation in sun-exposed areas Spastic paraplegia Abnormality of the nervous system Horizontal nystagmus Chronic constipation Generalized hirsutism Narrow palpebral fissure Bilateral ptosis Preaxial polydactyly Ocular albinism Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Anal stenosis Foot polydactyly Arnold-Chiari type I malformation Optic nerve coloboma Retrognathia Medulloblastoma Anterior plagiocephaly Cutaneous syndactyly of toes Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Cognitive impairment Flexion contracture Peripheral neuropathy Babinski sign Kyphoscoliosis Enlarged cisterna magna Cerebellar atrophy Hyperactive deep tendon reflexes Severe short stature Flat face Inability to walk Sandal gap Hyperplasia of the maxilla Depressed nasal bridge Frontal bossing Talipes equinovarus Anteverted nares Recurrent infections Proptosis Joint laxity High forehead Osteopenia Telecanthus Sparse hair Small for gestational age Talipes Short distal phalanx of finger Sparse and thin eyebrow Profound global developmental delay Anisopoikilocytosis Abnormal cardiac septum morphology Neonatal hypotonia Hypertonia Dermal atrophy Immunodeficiency Hypermetropia Chromosomal breakage induced by ionizing radiation Photophobia Dry skin Cutaneous photosensitivity Hyperpigmentation of the skin Conjunctivitis Melanoma Ectropion Deeply set eye Keratitis Poikiloderma Entropion Cutaneous melanoma Freckles in sun-exposed areas Low-set ears Short nose Absent speech Narrow mouth Thin upper lip vermilion Intellectual disability, severe Depressivity Gaze-evoked nystagmus Cerebellar hypoplasia Abnormality of calvarial morphology Poliosis Piebaldism Absent pigmentation of the ventral chest Scoliosis Sensorineural hearing impairment Delayed speech and language development Dysarthria Hyporeflexia Pes cavus White eyelashes Gait ataxia Pes planus Malabsorption Dysmetria Abnormal cerebellum morphology Gliosis Intention tremor Limb ataxia Incoordination Dysdiadochokinesis White eyebrow Partial albinism Autism Hyperphenylalaninemia Mental deterioration Attention deficit hyperactivity disorder Nausea and vomiting Memory impairment Cerebral calcification Eczema Hemiplegia Self-injurious behavior Lack of skin elasticity Motor deterioration Neoplasm White forelock Wide nasal bridge Long philtrum Synophrys Aganglionic megacolon Neoplasm of the skin Albinism Abnormality of the ear Macule Blue irides Heterochromia iridis Premature graying of body hair


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