Abnormal facial shape, and Papule

Low match LARGE CONGENITAL MELANOCYTIC NEVUS

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

• Seizures
• Hypertelorism
• Neoplasm
• Failure to thrive
• Hydrocephalus

SOURCES: ORPHANET OMIM MENDELIAN

Low match SPINOCEREBELLAR ATAXIA TYPE 34

Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

• Ataxia
• Nystagmus
• Strabismus
• Spasticity
• Hyperreflexia

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match KERATODERMA HEREDITARIUM MUTILANS

Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

• Hearing impairment
• Microcephaly
• Sensorineural hearing impairment
• Cleft palate
• Cognitive impairment

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

• Hearing impairment
• Sensorineural hearing impairment
• Muscle weakness
• Cognitive impairment
• Depressed nasal bridge

SOURCES: OMIM ORPHANET MENDELIAN

Low match JUVENILE HYALINE FIBROMATOSIS

Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

• Neoplasm
• Failure to thrive
• Pain
• Flexion contracture
• Skeletal muscle atrophy

SOURCES: OMIM ORPHANET MENDELIAN

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

• Micrognathia
• Abnormal facial shape
• Cryptorchidism
• Ptosis
• Abnormality of the skeletal system

SOURCES: OMIM MENDELIAN

Low match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Growth delay
• Sensorineural hearing impairment

SOURCES: OMIM ORPHANET MENDELIAN

Low match VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

• Generalized hypotonia
• Hearing impairment
• Growth delay
• Failure to thrive
• Sensorineural hearing impairment

SOURCES: OMIM MENDELIAN

Low match PROLIDASE DEFICIENCY

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Hypertelorism
• Micrognathia

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

• Short stature
• Micrognathia
• Cataract
• Hypertension
• Hepatomegaly

SOURCES: OMIM ORPHANET MENDELIAN