Developmental Disorder
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More Specific Terms
- agenesis of the corpus callosum with mental retardation, ocular coloboma & micrognathia
- amelogenesis imperfecta
- anhidrotic ectodermal dysplasia
- ankyloglossia (tongue tie)
- anophthalmia (microphthalmia 2)
- anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism
- aphakia
- Athabaskan brainstem dysgenesis syndrome (Navajo brainstem syndrome)
- autism (autistic spectrum disorder, ASD)
- autosomal dominant aplasia of lacrimal & salivary glands (ALSG)
- autosomal dominant keratitis
- autosomal dominant syndactyly; nonsyndromic syndactyly
- Barth syndrome
- Bietti's crystalline dystrophy
- bilateral optic nerve hypoplasia/aplasia
- Bosley-Salih-Alorainy syndrome
- bronchopulmonary dysplasia
- campomelic dysplasia
- camptodactyly tall stature & hearing loss syndrome (CATSHL syndrome)
- cat-eye syndrome
- CATCH22 syndrome
- caudal duplication anomaly
- central nervous system (CNS) malformation
- cerebellar hypoplasia (cerebellar agenesis)
- cerebro-oculo-facio-skeletal syndrome (COFS); Pena Shokeir 2 syndrome; Cockayne syndrome type 2
- CHARGE syndrome
- congenital alcoholism (teratogenic effects of alcoholism)
- congenital amegakaryocytic thrombocytopenia
- congenital anomaly (birth defect)
- congenital cataracts facial dysmorphism & neuropathy syndrome
- congenital heart defect
- Cornelia de Lange syndrome
- Costello syndrome (faciocutaneoskeletal syndrome)
- craniolenticulosutural dysplasia
- craniometaphyseal dysplasia
- cryptophthalmos syndrome (Fraser syndrome)
- cryptorchidism
- deafness with labyrinthine aplasia, microtia & microdontia (LAMM)
- delayed puberty
- developmental bone disorder
- developmental delay
- developmental disorder of aldosterone deficiency
- developmental disorder syndrome (multisystem disorder)
- developmental dyspraxia
- developmental thyroid disease
- dsytonia deafness syndrome; Mohr-Traneberg syndrome; deafness-dystonia-optic atrophy syndrome; X-linked progressive deafness type 1
- Dyggve-Melchior-Clausen syndrome
- ectopia pupillae
- ethylmalonic encephalopathy
- familial chronic mucocutaneous candidiasis with thyroid disease (CMCT)
- familial deafness
- Farber disease (Farber lipogranulomatosis)
- fibrous dysplasia
- foveal hypoplasia
- Friedreich ataxia
- gonadal dysgenesis XY
- hemiplegia alterans (alternating hemiplegia)
- hereditary hyperekplexia (Kok disease, startle disease, stiff baby syndrome)
- heterotaxia
- hip dysplasia
- hypochondroplasia
- hypoparathyroidism, sensorineural deafness & renal dysplasia (HDR syndrome)
- hypospadias
- hypospadius
- hypotrichosis-lymphedema-telangiectasia syndrome
- infantile systemic hyalinosis
- infundibular hypoplasia & hypopituitarism
- Jensen syndrome; opticoacoustic nerve atrophy with dementia
- Johanson-Blizzard syndrome (JBS)
- juvenile hyaline fibromatosis
- lethal type multiple pterygium syndrome
- low birth weight infant (preterm infant)
- lymphedema-hypoparathyroidism syndrome
- Meckel syndrome
- Meckel's diverticulum (ileal diverticulum)
- microglossia
- microphthalmia (nanophthalmos)
- Mobius syndrome (congenital facial diplegia)
- Muellerian aplasia
- multiple synostoses syndrome
- myoclonic encephalopathy
- nemaline myopathy (rod myopathy)
- nonlethal type multiple pterygium syndrome; Escobar syndrome; Escobar variant multiple pterygium syndrome
- Ohtahara syndrome (early infantile epileptic encephalopathy)
- oral-facial-digital syndrome
- osteopetrosis (Albers-Schonberg disease)
- pancreatic agenesis
- parietal foramina
- Parry-Romberg syndrome (progressive hemifacial atrophy)
- pectus carinatum
- pectus excavatum
- Pelizaeus-Merzbacher-like disease
- Peters-plus syndrome
- phenytoin teratogenesis
- phocomelia
- platyspondylic lethal skeletal dysplasia (PLSD)
- polydactyly
- pontocerebellar hypoplasia
- popliteal pterygium syndrome
- pseudohypoparathyroidism
- pulmonary hypoplasia
- Rett syndrome
- Rubinstein-Taybi syndrome
- Sabjad-Sakati syndrome; hyoparathyroidism-retardation-dysmorphism (HRD)
- Schwartz-Jampel syndrome (SJS1)
- septo-optic dysplasia (de Morsier's syndrome)
- Shprintzen syndrome (velocardiofacial syndrome)
- Smith-Magenis syndrome
- Smith-McCort dysplasia
- speech-language disorder; specific language impairment; developmental verbal dyspraxia
- split hand/split foot malformation
- split-hand/foot malformation
- stapes ankylosis with broad thumb & toes
- Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
- symphalangism proximal syndrome
- tarsal-carpal coalition syndrome
- thanatophoric dysplasia/dwarfism
- tooth agenesis
- VACTERL
- van der Woude syndrome (lip-pit syndrome)
- vascular malformation
- VATER syndrome
More General Terms
Additional Terms
References
- NINDS Pervasive Developmental Disorders Information Page [1]
- Developmental Disabilities: NIH Institute and Center Resources [2]
- No authors listed] Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics. 2006 Jul;118(1):405-20. PMID: [3]
- National Guideline Clearinghouse Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. (American Academy of Pediatrics) ngc-guideline: [4]
- Growth disturbances: risk of intrauterine growth restriction. American College of Radiology ngc-guideline: [5]
