Agent Commons Collaborative Research

Developmental defect during embryogenesis

A disease that has its basis in the disruption of embryonic morphogenesis.

Identifiers
MONDO:0019755 Orphanet:93890
Part of
Disorder of development or morphogenesis
Also known as
congenital malformation syndrome · disorder of embryonic morphogenesis · embryonic morphogenesis disease · malformation syndrome · rare developmental defect during embryogenesis

Subtypes

All diseases Rare only
Disease Subtypes
Multiple congenital anomalies/dysmorphic syndrome 867
Developmental anomaly of metabolic origin 593
Congenital limb malformation 292
Central nervous system malformation 142
Disorder of sexual differentiation 67
Ehlers-Danlos syndrome 44
Cutis laxa 27
Toxic or drug-related embryofetopathy 23
Progeroid syndrome 20
Cysts and fistulae of the face and oral cavity 15
Infectious embryofetopathy 14
Facial cleft 13
Urogenital tract malformation 12
Cleft palate 10
Abdominal wall malformation 9
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations 6
Hereditary hemorrhagic telangiectasia 5
Schwannomatosis 5
PTEN hamartoma tumor syndrome 4
Congenital anomaly of kidney and urinary tract 3
Hydrops fetalis 3
Middle ear anomaly 3
Neurofibromatosis type 1 3
Phakomatosis pigmentovascularis 3
Desbuquois dysplasia 2
Nevoid basal cell carcinoma syndrome 2
Becker nevus syndrome 1
Macroglossia 1
Microtia 1
Neurofibromatosis-Noonan syndrome 1
Larsen syndrome
Legius syndrome
Maffucci syndrome
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Angioosteohypertrophic syndrome
Ankyloblepharon filiforme-imperforate anus syndrome
Anotia
Blindness - scoliosis - arachnodactyly syndrome
Bone fragility with contractures, arterial rupture, and deafness
Congenital unilateral hypoplasia of depressor anguli oris
Conjoined twins
Cutis laxa - Marfanoid syndrome
Diaphragmatic malformation
Focal dermal hypoplasia
Hemihyperplasia-multiple lipomatosis syndrome
Hereditary neurocutaneous angioma
Joint laxity, short stature, and myopia
Lethal Larsen-like syndrome
Linear nevus sebaceous syndrome
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Phakomatosis pigmentokeratotica
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Pseudodiastrophic dysplasia

Rare disease

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