Bullous Dystrophy) Source: Atlas of X-Linked Intellectual Disability Syndromes (2 ed.) [oxfordmedicine.com]

Affiliated tissues include skin, and related phenotypes are intellectual disability and microcephaly [malacards.org]

Hereditary Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia totalis; Death in childhood; Hyperpigmentation of the skin; Intellectual disability [mousephenotype.org]

Intellectual disability MedGen UID: 334384 • Concept ID: C1843367 • Finding Acrocyanosis MedGen UID: 65138 • Concept ID: C0221347 • Finding Persistent, symmetric, and painless blue discoloration of the extremities. [ncbi.nlm.nih.gov]

disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

Severe short stature MedGen UID: 3931 • Concept ID: C0013336 • Congenital Abnormality A genetic or pathological condition that is characterized by short stature and undersize. [ncbi.nlm.nih.gov]

Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers [malacards.org]

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short finger Stubby finger 0009381 X-linked inheritance 0001417 Showing of 14 Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare [rarediseases.info.nih.gov]

[pmid:19125433] Short finger MedGen UID: 334977 • Concept ID: C1844548 • Finding Abnormally short finger associated with developmental hypoplasia. [ncbi.nlm.nih.gov]

BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia totalis; Death in childhood; Hyperpigmentation of the skin; Intellectual disability; Microcephaly; Severe short stature; Short [mousephenotype.org]

finger Stubby finger 0009381 X-linked inheritance 0001417 Showing of 14 Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Bullous Dystrophy, Hereditary Macular Type Name Bullous Dystrophy, Hereditary Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia totalis; Death [mousephenotype.org]

[…] in childhood 0003819 Hyperpigmentation of the skin Patchy darkened skin 0000953 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short finger Stubby finger 0009381 X-linked inheritance 0001417 Showing of 14 [rarediseases.info.nih.gov]

congenital anomalies-intellectual disability-autism spectrum disorder ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome [se-atlas.de]

Intellectual disability MedGen UID: 334384 • Concept ID: C1843367 • Finding Acrocyanosis MedGen UID: 65138 • Concept ID: C0221347 • Finding Persistent, symmetric, and painless blue discoloration of the extremities. [ncbi.nlm.nih.gov]

Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers [malacards.org]

Disease: Bullous Dystrophy, Hereditary Macular Type Name Bullous Dystrophy, Hereditary Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia [mousephenotype.org]

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cardiomegaly-congestive [se-atlas.de]

The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously. [checkorphan.org]

Showing of 14 Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormal blistering of the skin Blistering, generalized Blisters [ more ] 0008066 Abnormality of the nail 0001597 Acrocyanosis Persistent blue color of hands [rarediseases.info.nih.gov]

The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the [ncbi.nlm.nih.gov]

Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers [malacards.org]

Disease: Bullous Dystrophy, Hereditary Macular Type Name Bullous Dystrophy, Hereditary Macular Type Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Classification genetic, neurological, skin Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia [mousephenotype.org]

Hyperpigmentation of the skin MedGen UID: 57992 • Concept ID: C0162834 • Pathologic Function A darkening of the skin related to an increase in melanin production and deposition. [ncbi.nlm.nih.gov]

Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers [malacards.org]

Overview Bullous dystrophy, macular type: A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. [checkorphan.org]

head circumference [ more ] 0000252 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 30%-79% of people have these symptoms Abnormality of the genital system Genital abnormalities Genital abnormality Genital anomalies Genital defects [rarediseases.info.nih.gov]

dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy [se-atlas.de]