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Dyssegmental dysplasia, Silverman-Handmaker type
1 OMIM reference -
1 associated gene
18 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Lipoid proteinosis
1 OMIM reference -
1 associated gene
24 signs/symptoms
Dyssegmental dysplasia, Silverman-Handmaker type
Lipoid proteinosis

HSPG2
(UniProt - OMIM)
 ECM1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HSPG2
(0.67)
ECM1


Citations in the biomedical literature:


Dyssegmental dysplasia, Silverman-Handmaker type
HSPG2
Lipoid proteinosis
ECM1



Dyssegmental dysplasia, Silverman-Handmaker type
Lipoid proteinosis

Synonym(s):
(no synonyms)

Synonym(s):
- Hyalinosis cutis et mucosae
- Urbach-Wiethe disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance

Dyssegmental dysplasia, Silverman-Handmaker type
Lipoid proteinosis

Very frequent
- Abnormal vertebral size / shape
- Blue sclerae
- Bowed diaphysis / diaphyses / long bones
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flattened nose
- Inguinal / inguinoscrotal / crural hernia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Stillbirth / neonatal death
- Umbilical hernia



Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal scarring / cheloids / hypertrophic scars
- Acne / acnea
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of tongue, gingiva and oral mucosa
- Dermal / subcutaneous infiltration / induration
- Follicular / erythematous / edematous papules / milium
- Pustula / pustulosis
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thick lips
- Thick skin / pachydermia / orange skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Dystonia / torticollis / writer's cramp / blepharospasms
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Repeat respiratory infections
- Warts / papillomas

Occasional
- Intracranial / cerebral calcifications
- Nasal polyposis
- Seizures / epilepsy / absences / spasms / status epilepticus