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International Statistical Classification of Diseases and Related Health Problems

List of ICD-9 codes 740–759: congenital anomalies

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List of ICD-9 codes 740–759: congenital anomalies

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ICD-9 chapters
Chapter	Block	Title
I	001–139	Infectious and Parasitic Diseases
II	140–239	Neoplasms
III	240–279	Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders
IV	280–289	Diseases of the Blood and Blood-forming Organs
V	290–319	Mental Disorders
VI	320–389	Diseases of the Nervous System and Sense Organs
VII	390–459	Diseases of the Circulatory System
VIII	460–519	Diseases of the Respiratory System
IX	520–579	Diseases of the Digestive System
X	580–629	Diseases of the Genitourinary System
XI	630–679	Complications of Pregnancy, Childbirth, and the Puerperium
XII	680–709	Diseases of the Skin and Subcutaneous Tissue
XIII	710–739	Diseases of the Musculoskeletal System and Connective Tissue
XIV	740–759	Congenital Anomalies
XV	760–779	Certain Conditions originating in the Perinatal Period
XVI	780–799	Symptoms, Signs and Ill-defined Conditions
XVII	800–999	Injury and Poisoning
	E800–E999	Supplementary Classification of External Causes of Injury and Poisoning
	V01–V82	Supplementary Classification of Factors influencing Health Status and Contact with Health Services
	M8000–M9970	Morphology of Neoplasms

This is a shortened version of the fourteenth chapter of the ICD-9: Congenital Anomalies. It covers ICD codes 740 to 759. The full chapter can be found on pages 417 to 437 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1. Both volumes can be downloaded for free from the website of the World Health Organization.

Nervous system (740–742)

740 Anencephalus and similar anomalies
- 740.0 Anencephalus
741 Spina bifida
742 Other congenital anomalies of nervous system
- 742.1 Microcephalus
- 742.3 Hydrocephalus

Eye, ear, face and neck (743–744)

743 Congenital anomalies of eye
- 743.0 Anophthalmos
  - 743.00 Clinical anophthalmos unspecified
  - 743.03 Cystic eyeball congenital
  - 743.06 Cryptophthalmos
- 743.1 Microphthalmos
- 743.2 Buphthalmos
- 743.3 Congenital cataract and lens anomalies
- 743.4 Coloboma and other anomalies of anterior segment
  - 743.45 Aniridia
- 743.5 Congenital anomalies of posterior segment
- 743.6 Congenital anomalies of eyelids, lacrimal system, and orbit
744 Congenital anomalies of ear, face, and neck
- 744.0 Anomalies of ear causing impairment of hearing
- 744.1 Accessory auricle
- 744.2 Other specified congenital anomalies of ear
  - 744.22 Macrotia
  - 744.23 Microtia
- 744.3 Unspecified congenital anomaly of ear
- 744.4 Branchial cleft cyst or fistula; preauricular sinus
- 744.5 Webbing of neck
- 744.8 Other specified congenital anomalies of face and neck

Circulatory system (745–747)

745 Bulbus cordis anomalies and anomalies of cardiac septal closure
746 Other congenital anomalies of heart
- 746.1 Tricuspid atresia and stenosis congenital
- 746.2 Ebstein's anomaly
- 746.3 Congenital stenosis of aortic valve
- 746.4 Congenital insufficiency of aortic valve
- 746.5 Congenital mitral stenosis
- 746.6 Congenital mitral insufficiency
- 746.7 Hypoplastic left heart syndrome
- 746.8 Other specified congenital anomalies of heart
  - 746.81 Subaortic stenosis congenital
  - 746.82 Cor triatriatum
  - 746.83 Infundibular pulmonic stenosis congenital
  - 746.84 Congenital obstructive anomalies of heart not elsewhere classified
  - 746.85 Coronary artery anomaly congenital
  - 746.86 Congenital heart block
  - 746.87 Malposition of heart and cardiac apex
  - 746.89 Other specified congenital anomalies of heart
    - Brugada syndrome
747 Other congenital anomalies of circulatory system
- 747.1 Coarctation of aorta
  - 747.11 Interruption of aortic arch
- 747.2 Other congenital anomalies of aorta
- 747.3 Congenital anomalies of pulmonary artery
- 747.4 Congenital anomalies of great veins
- 747.5 Absence or hypoplasia of umbilical artery
- 747.6 Arteriovenous malformation, unspec.
- 747.8 Other specified anomalies of circulatory system
- 747.9 Unspecified congenital anomaly of circulatory system

Respiratory system (748–748)

748 Congenital anomalies of respiratory system
- 748.0 Choanal atresia

Digestive system (749–751)

749 Cleft palate
- 749.0 Cleft palate, unspec.
- 749.2 Cleft palate w/ cleft lip
750 Other congenital anomalies of upper alimentary tract
751 Other congenital anomalies of digestive system

Genital organs (752–752)

752 Congenital anomalies of genital organs
- 752.0 Congenital anomalies of ovaries
- 752.1 Congenital anomalies of fallopian tubes and broad ligaments
- 752.2 Doubling of uterus
- 752.3 Other congenital anomalies of uterus
- 752.4 Anomalies of cervix, vagina, and external female genitalia
  - 752.42 Imperforate hymen
  - 752.43 Cervical agenesis
- 752.5 Undescended testicle
- 752.6 Hypospadias and epispadias
- 752.7 Indeterminate sex and pseudohermaphroditism

Urinary system (753–753)

753 Congenital anomalies of urinary system
- 753.0 Renal agenesis and dysgenesis
- 753.1 Cystic kidney disease
- 753.2 Obstructive defects of renal pelvis and ureter
- 753.3 Other specified anomalies of kidney
  - Renal ectopia
  - Horseshoe kidney
- 753.4 Other specified anomalies of ureter
  - Ectopic ureter
- 753.5 Exstrophy of urinary bladder
- 753.6 Atresia and stenosis of urethra and bladder neck
- 753.7 Anomalies of urachus
  - Urachal cyst
- 753.8 Other specified anomalies of bladder and urethra
- 753.9 Unspecified anomaly of urinary system

Musculoskeletal system (754–756)

754 Certain congenital musculoskeletal deformities
- 754.1 Torticollis, sternomastoid
- 754.3 Dislocation of hip, unilateral
- 754.5 Varus deformities of feet
  - 754.51 Talipes equinovarus
- 754.6 Valgus deformities of feet
- 754.8 Other specified nonteratogenic anomalies
  - 754.81 Pectus excavatum
755 Other congenital anomalies of limbs
- 755.0 Polydactyly
- 755.1 Syndactyly
- 755.5 Other congenital anomalies of upper limb including shoulder girdle
  - 755.54 Madelung's deformity
  - 755.55 Acrocephalosyndactyly
    - Apert syndrome
- 755.9 Limb anomaly, unspec.
756 Other congenital musculoskeletal anomalies

Integument (757–757)

757 Congenital anomalies of the integument
- 757.3 Other specified anomalies of skin
  - 757.32 Birthmarks
  - 757.39 Other specified congenital anomalies of skin
- 757.6 Supernumerary nipple

Chromosomal anomalies (758–758)

758 Chromosomal anomalies
- 758.0 Down syndrome
- 758.1 Patau's syndrome
- 758.2 Edward's syndrome
- 758.3 Autosomal deletion syndromes
- 758.4 Balanced autosomal translocation in normal individual
- 758.5 Other conditions due to autosomal anomalies
- 758.6 Gonadal dysgenesis
  - Turner syndrome
  - XO syndrome
- 758.7 Klinefelter syndrome
- 758.8 Other conditions due to sex chromosome anomalies
  - Snyder–Robinson syndrome (SRS)
- 758.9 Conditions due to anomaly of unspecified chromosome

Other (759–759)

759 Other and unspecified congenital anomalies
- 759.0 Anomalies of spleen, congenital
- 759.1 Anomalies of adrenal gland, congenital
- 759.2 Anomalies of other endocrine glands, congenital
- 759.3 Situs inversus
- 759.4 Conjoined twins
- 759.5 Tuberous sclerosis
- 759.6 Other congenital hamartoses, not elsewhere classified
  - Cowden syndrome
- 759.7 Multiple congenital anomalies, so described
- 759.8 Other specified congenital anomalies
  - 759.81 Prader-Willi syndrome
  - 759.82 Marfan syndrome
  - 759.83 Fragile X syndrome
  - 759.89 Other specified congenital anomalies
- 759.9 Congenital anomaly, unspecified

Congenital malformations and deformations of nervous system

Brain

Neural tube defect	Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Chiari malformation
Other	Microcephaly Congenital hydrocephalus Dandy–Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Microlissencephaly Pachygyria Hydranencephaly Septo-optic dysplasia Megalencephaly Hemimegalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria

Spinal cord

Neural tube defect	Spina bifida Rachischisis
Other	Currarino syndrome Diastomatomyelia Syringomyelia

Congenital malformations and deformations of eyes

Adnexa

Eyelid	Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon
Lacrimal apparatus	Congenital lacrimal duct obstruction

Globe

Entire eye	Anophthalmia (Cystic eyeball, Cryptophthalmos) Microphthalmia
Lens	Ectopia lentis Aphakia
Iris	Aniridia
Anterior segment	Axenfeld–Rieger syndrome
Cornea	Keratoglobus Megalocornea
Retina	Megalopapilla
Other	Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie disease

v t e Congenital malformations and deformations of face and neck
Face	jaw: Otocephaly mouth: Macrostomia Microstomia lip: Macrocheilia Microcheilia chin: Microgenia multiple/other: Hallermann–Streiff syndrome Branchial cleft cyst
Neck	Webbed neck
Ungrouped	Preauricular sinus and cyst

Congenital heart defects

Heart septal defect

Aortopulmonary septal defect	Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window
Atrial septal defect	Sinus venosus atrial septal defect Lutembacher's syndrome
Ventricular septal defect	Tetralogy of Fallot
Atrioventricular septal defect	Ostium primum
Consequences	Cardiac shunt Cyanotic heart disease Eisenmenger syndrome

Valvular heart disease

Right	pulmonary valves stenosis insufficiency absence tricuspid valves atresia regurgitation stenosis Ebstein's anomaly
Left	aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation

Other

Underdeveloped heart chambers
- right
- left
- Uhl anomaly
Dextrocardia
Levocardia
Cor triatriatum
Crisscross heart
Brugada syndrome
Coronary artery anomaly
Anomalous aortic origin of a coronary artery
Ventricular inversion

Congenital vascular defects / Vascular malformation

Great arteries/
other arteries

Aorta	Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring
Pulmonary artery	Pulmonary atresia Stenosis of pulmonary artery
Subclavian artery	Aberrant subclavian artery
Umbilical artery	Single umbilical artery

Great veins

Superior/inferior vena cava	Congenital stenosis of vena cava Persistent left superior vena cava
Pulmonary vein	Anomalous pulmonary venous connection (Total, Partial) Scimitar syndrome

Arteriovenous malformation

Cerebral arteriovenous malformation

Congenital malformations and deformations of respiratory system

Upper RT

Nose	Choanal atresia Arrhinia
Larynx	Laryngeal cyst Laryngocele Laryngomalacia

Lower RT

Trachea and bronchus	Tracheomalacia Tracheal stenosis Bronchomalacia Tracheobronchomegaly
Lung	Bronchiectasis Pulmonary hypoplasia Pulmonary sequestration Congenital cystic adenomatoid malformation

Congenital malformations and deformations of digestive system

Upper GI tract

Tongue, mouth and pharynx	Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia
Esophagus	EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower)
Stomach	Pyloric stenosis Hiatus hernia

Lower GI tract

Intestines	Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst
Rectum/anal canal	Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia

Accessory

Pancreas	Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum
Bile duct	Choledochal cysts Caroli disease Biliary atresia
Liver	Alagille syndrome Polycystic liver disease

Female and Male congenital anomalies of the genitalia, including intersex and DSD

Internal

Uterine malformation

Müllerian agenesis
Cervical agenesis
Unicornuate uterus
Uterus didelphys
Bicornuate uterus
Uterine septum
Arcuate uterus

Vagina

Testicle

Cryptorchidism Polyorchidism Monorchism Anorchia Sertoli cell-only syndrome
True hermaphroditism Mixed gonadal dysgenesis Swyer syndrome

Vas deferens

Congenital absence of the vas deferens

Other

Persistent Müllerian duct syndrome

External

Penis	Hypospadias Epispadias Chordee Micropenis Aphallia Diphallia Penoscrotal transposition
Other	Clitoromegaly Progestin-induced virilization Pseudohermaphroditism True hermaphroditism

Congenital malformations and deformations of urinary system

Abdominal

Kidney	Renal agenesis Renal hypoplasia Potter sequence Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Supernumerary kidney Pelvic kidney Dent's disease Alport syndrome
Ureter	Ectopic ureter Megaureter Duplicated ureter

Pelvic

Bladder	Bladder exstrophy
Urethra	Epispadias Hypospadias Posterior urethral valves Penoscrotal transposition

Vestigial

Urachus	Urachal cyst Urachal fistula Urachal sinus

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality

Appendicular
limb / dysmelia

Arms

clavicle / shoulder	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome
hand deformity	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

Leg

hip	Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara
knee	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation
foot deformity	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb
reduction deficits / limb	Acheiropodia Ectromelia Phocomelia Amelia Hemimelia
multiple joints	Arthrogryposis Larsen syndrome RAPADILINO syndrome

Axial

Skull and face

Craniosynostosis	Scaphocephaly Oxycephaly Trigonocephaly
Craniofacial dysostosis	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Oto-palato-digital syndrome Treacher Collins syndrome
other	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

Vertebral column

Thoracic skeleton

ribs:	Cervical Bifid
sternum:	Pectus excavatum Pectus carinatum

Osteochondrodysplasia

Osteodysplasia/
osteodystrophy

Diaphysis	Camurati–Engelmann disease
Metaphysis	Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia
Epiphysis	Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia
Osteosclerosis	Raine syndrome Osteopoikilosis Osteopetrosis
Other/ungrouped	FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome

Chondrodysplasia/
chondrodystrophy
(including dwarfism)

Osteochondroma

osteochondromatosis
- Hereditary multiple exostoses

Chondroma/enchondroma

enchondromatosis
- Ollier disease
- Maffucci syndrome

Growth factor receptor

FGFR2:	Antley–Bixler syndrome
FGFR3:	Achondroplasia Hypochondroplasia Thanatophoric dysplasia

COL2A1 collagen disease

SLC26A2 sulfation defect

Chondrodysplasia punctata

Other dwarfism

v t e Congenital diaphragm and abdominal wall defects, abdominopelvic cavity
Thoracic diaphragm	Hernia Congenital diaphragmatic hernia Bochdalek hernia
Abdominal wall	Omphalocele Gastroschisis Prune belly syndrome

Congenital malformations and deformations of integument / skin disease

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris
AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome CHIME syndrome Sjögren–Larsson syndrome
XR	X-linked ichthyosis
Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK

diffuse: Diffuse epidermolytic palmoplantar keratoderma
Diffuse nonepidermolytic palmoplantar keratoderma
Palmoplantar keratoderma of Sybert
Meleda disease

syndromic

ungrouped: Palmoplantar keratoderma and spastic paraplegia
desmoplakin
- Carvajal syndrome
connexin
- Erythrokeratodermia variabilis
- HID/KID

Other

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii
Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae
Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

v t e Congenital malformations and deformations of skin appendages
Nail disease	Anonychia Leukonychia Pachyonychia congenita/Onychauxis Koilonychia
Hair disease	hypotrichosis/abnormalities: keratin disease Monilethrix IBIDS syndrome Sabinas brittle hair syndrome Pili annulati Pili torti Uncombable hair syndrome Björnstad syndrome Giant axonal neuropathy with curly hair hypertrichosis: Zimmermann–Laband syndrome

Chromosome abnormalities

Autosomal

Trisomies/tetrasomies

Warkany syndrome 2
- 8
Trisomy 9
Tetrasomy 9p
Trisomy 16
Cat eye syndrome/Trisomy 22
- 22

Monosomies/deletions

genomic imprinting
- Angelman syndrome/Prader–Willi syndrome (15)

Distal 18q-/Proximal 18q-

X/Y linked

Monosomies	Turner syndrome (45,X)
Trisomies/tetrasomies, other karyotypes/mosaics	Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) XXXXY syndrome (49,XXXXY) Trisomy X (47,XXX) Tetrasomy X (48,XXXX) Pentasomy X (49,XXXXX) XYY syndrome (47,XYY) XYYY syndrome (48,XYYY) XYYYY syndrome (49,XYYYY) 45,X/46,XY 46,XX/46,XY

Translocations

Leukemia/lymphoma

Lymphoid	Burkitt lymphoma t(8 MYC;14 IGH) Follicular lymphoma t(14 IGH;18 BCL2) Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) Anaplastic large-cell lymphoma t(2 ALK;5 NPM1) Acute lymphoblastic leukemia
Myeloid	Philadelphia chromosome t(9 ABL; 22 BCR) Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) Acute promyelocytic leukemia t(15 PML,17 RARA) Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)

Other

Ewing sarcoma t(11 FLI1; 22 EWS)
Synovial sarcoma t(x SYT;18 SSX)
Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
Myxoid liposarcoma t(12 DDIT3; 16 FUS)
Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)

Other

v t e Lymphatic disease: organ and vessel diseases
Thymus	Abscess Hyperplasia Hypoplasia DiGeorge syndrome Ectopic thymus Thymoma Thymic carcinoma
Spleen	Asplenia Asplenia with cardiovascular anomalies Accessory spleen Polysplenia Wandering spleen Splenomegaly Banti's syndrome Splenic infarction Splenic tumor
Lymph node	Lymphadenopathy Generalized lymphadenopathy Castleman's disease Intranodal palisaded myofibroblastoma Kikuchi disease Tonsils see Template:Respiratory pathology
Lymphatic vessels	Lymphangitis Lymphangiectasia Lymphedema Primary lymphedema Congenital lymphedema Lymphedema praecox Lymphedema tarda Lymphedema–distichiasis syndrome Milroy's disease Secondary lymphedema Bullous lymphedema Factitial lymphedema Postinflammatory lymphedema Postmastectomy lymphangiosarcoma Waldmann disease

v t e Congenital endocrine disorders
Pituitary	Congenital hypopituitarism
Thyroid	Thyroid disease Persistent thyroglossal duct Thyroglossal cyst Congenital hypothyroidism Thyroid dysgenesis Thyroid dyshormonogenesis Pendred syndrome
Parathyroid	Congenital absence of parathyroid
Adrenal	Absent adrenal gland

v t e Twin conditions
Zygosity	Twin
Monochorionic twins	Twin-to-twin transfusion syndrome Twin reversed arterial perfusion Monoamniotic twins
Conjoined twins	Parasitic twin Craniopagus parasiticus Fetus in fetu
Other	Vanishing twin Chimerism Mixed twins

v t e Phakomatosis
Angiomatosis	Sturge–Weber syndrome Von Hippel–Lindau disease
Hamartoma	Tuberous sclerosis Hypothalamic hamartoma (Pallister–Hall syndrome) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease
Neurofibromatosis	Type I Type II
Other	Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome Encephalocraniocutaneous lipomatosis

v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

v t e Congenital malformations and deformations of ears
Size	Macrotia Microtia Anotia
Position	Low-set ears
Other	Accessory auricle Mondini dysplasia

v t e Congenital malformations and deformations of the breast
Breast	Amastia Polymastia Micromastia Symmastia Tuberous breasts
Nipple	Athelia Polythelia