Global developmental delay, and Nevus

Diseases related with Global developmental delay and Nevus

In the following list you will find some of the most common rare diseases related to Global developmental delay and Nevus that can help you solving undiagnosed cases.

Top matches:

Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994).A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, {113800}), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994).Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015).Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012).Also see giant pigmented hairy nevus (OMIM ) and malignant melanoma (OMIM ).

NEVUS, EPIDERMAL Is also known as nevus, keratinocytic, nonepidermolytic

Related symptoms:

  • Global developmental delay
  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Nevus
  • Epidermal acanthosis


SOURCES: OMIM MENDELIAN

More info about NEVUS, EPIDERMAL

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about STURGE-WEBER SYNDROME; SWS

Other less relevant matches:

Low match CLN7 DISEASE

The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CLN7 DISEASE

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

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Linear and whorled hypermelanosis (LWNH) is a benign skin condition characterized by onset in infancy of hyperpigmented regions composed of small light brown spots that coalesce with age and follow the lines of Blaschko on the trunk and limbs. The soles, palms, face, and mucous membranes are spared. The lesions are asymptomatic and progress with age; affected individuals have no accompanying extradermal features. There is no previous history of inflammation on affected areas (summary by Kalter et al., 1988).

BECKER NEVUS SYNDROME Is also known as pigmentary hairy epidermal nevus

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Kyphosis
  • Pectus excavatum
  • Autism


SOURCES: OMIM ORPHANET MENDELIAN

More info about BECKER NEVUS SYNDROME

Low match CLN1 DISEASE

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid LipofuscinosisSee also CLN2 (OMIM ), caused by mutation in the TPP1 gene (OMIM ) on chromosome 11p15; CLN3 (OMIM ), caused by mutation in the CLN3 gene (OMIM ) on 16p12; CLN4A (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN4B (OMIM ), caused by mutation in the DNAJC5 gene (OMIM ) on 20q13; CLN5 (OMIM ), caused by mutation in the CLN5 gene (OMIM ) on 13q; CLN6 (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN7 (OMIM ), caused by mutation in the MFSD8 gene (OMIM ) on 4q28; CLN8 (OMIM ) and the Northern epilepsy variant of CLN8 (OMIM ), caused by mutation in the CLN8 gene (OMIM ) on 8pter; CLN10 (OMIM ), caused by mutation in the CTSD gene (OMIM ) on 11p15; CLN11 (OMIM ), caused by mutation in the GRN gene (OMIM ) on 17q; CLN13 (OMIM ), caused by mutation in the CTSF gene (OMIM ) on 11q13; and CLN14 (OMIM ), caused by mutation in the KCTD7 gene (OMIM ) on 7q11.CLN9 (OMIM ) has not been molecularly characterized.A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS ).

CLN1 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 1, variable age at onset

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN1 DISEASE

Top 5 symptoms//phenotypes associated to Global developmental delay and Nevus

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
EEG abnormality Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Nevus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Vacuolated lymphocytes Intracellular accumulation of autofluorescent lipopigment storage material Muscular hypotonia Failure to thrive Myoclonus Visual loss Cerebral atrophy Cerebellar atrophy Ataxia Generalized hypotonia Optic atrophy

Rare Symptoms - Less than 30% cases

Hyperkeratosis Nevus flammeus Rod-cone dystrophy Increased neuronal autofluorescent lipopigment Blindness Frontal bossing Microcephaly Full cheeks Pectus excavatum Arnold-Chiari malformation Polymicrogyria Scoliosis Hydrocephalus Hypermelanotic macule Sleep disturbance Neurodegeneration Loss of speech Delayed speech and language development Developmental regression Hamartoma Flexion contracture Curly hair Visual impairment Wide mouth Autism Irritability Melanocytic nevus Neurological speech impairment Progressive visual loss Woolly hair Joint hyperflexibility Facial asymmetry Toe syndactyly Hand polydactyly Relative macrocephaly Prominent forehead Aplasia/Hypoplasia of the cerebellum Cutis marmorata Delayed skeletal maturation Patent ductus arteriosus Telangiectasia of the skin Foot polydactyly Arteriovenous malformation Finger syndactyly High forehead Deeply set eye Ambiguous genitalia Unilateral cryptorchidism Penoscrotal hypospadias Cerebral ischemia Finger clinodactyly Depressed nasal bridge Decreased body weight Triangular face Retrognathia Ventriculomegaly Small hand Abnormality of cardiovascular system morphology Arrhythmia Pterygium Feeding difficulties in infancy Neoplasm Lower limb asymmetry Visceral angiomatosis Progressive microcephaly Abnormality of metabolism/homeostasis Depressivity Encephalopathy Dementia Parkinsonism Brain atrophy Postnatal microcephaly Hallucinations Macular degeneration Hyperpigmented streaks Global brain atrophy Muscle fibrillation Peripheral visual field loss Progressive encephalopathy Visual hallucinations Undetectable electroretinogram Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Spasticity Abnormality of the scrotum Abnormality of nervous system morphology Acne Asymmetric growth Kyphosis Pectus carinatum Micromelia Hypopigmentation of the skin Anorexia Spina bifida occulta Eosinophilia Supernumerary nipple Aplasia/Hypoplasia of the breasts Lipoatrophy Abnormality of tibia morphology Rib fusion Gastritis Supernumerary ribs Shoulder girdle muscle atrophy Reticular hyperpigmentation Upper limb asymmetry Hypoplastic labia minora Hypospadias Growth delay Motor delay Hemangioma Behavioral abnormality Cerebral cortical atrophy Glaucoma Stroke Abnormality of the cerebral white matter Hemiparesis Cafe-au-lait spot Congenital glaucoma Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Abnormality of the vasculature Buphthalmos Stroke-like episode Facial hemangioma Choroidal hemangioma Arachnoid hemangiomatosis Tremor Cognitive impairment Restlessness Aggressive behavior Nevus sebaceous Palmoplantar keratoderma Epidermal acanthosis Acanthosis nigricans Melanoma Congenital bullous ichthyosiform erythroderma Epidermal nevus Numerous nevi Epidermal thickening Hyperactive deep tendon reflexes Congenital giant melanocytic nevus Reduced visual acuity Generalized tonic-clonic seizures Psychosis Broad-based gait Clumsiness Focal impaired awareness seizure Rigidity Retinopathy Feeding difficulties Postnatal growth retardation Curved fingers Nystagmus Hypoplasia of the corpus callosum Cardiomyopathy Abnormal heart morphology Hyperhidrosis Hypertrophic cardiomyopathy Pulmonic stenosis Amblyopia Reduced bone mineral density Heat intolerance Hyperkeratosis pilaris Abnormality of the palpebral fissures Short stature Cryptorchidism Low-set ears Accelerated skeletal maturation Overgrowth Generalized myoclonic seizures Abnormal facial shape Focal-onset seizure Memory impairment Pigmentary retinopathy Abnormality of extrapyramidal motor function Postural tremor Vegetative state Strabismus Talipes equinovarus Astigmatism Hypertonia Abnormality of the dentition Kyphoscoliosis Neonatal hypotonia Telecanthus Camptodactyly Talipes Psychomotor deterioration


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