Specific code icon 2014 ICD-10-CM Diagnosis Code Q87.1

Congenital malformation syndromes predominantly associated with short stature

  • Q87.1 is a billable ICD-10-CM code that can be used to specify a diagnosis.
  • On October 1, 2014 ICD-10-CM will replace ICD-9-CM in the United States, therefore, Q87.1 and all other ICD-10-CM codes should only be used for training or planning purposes until then.
Clinical Information
  • A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the turner syndrome. Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities, characteristic facial features, and other abnormalities, and occasional hyperpyrexia may be associated. Cardiofaciocutaneous and noonan syndromes are sometimes considered the same entity.
  • A frequent multiple congenital anomaly/mental retardation syndrome of unknown etiology which affects 1/10,000 newborn infants. The most commonly occurring defects include growth deficiency, retarded psychomotor development, upper limb abnormalities, microbrachycephaly, and peculiar hair patterns giving the face its characteristic appearance, frequently associated with various neurological, behavioral, cardiovascular, gastrointestinal, dermatoglyphic abnormalities, and occasional sandifer anomaly (abnormal body posturing, torticollis, and gastro-esophageal reflux with or without a hiatus hernia). The phenotype is variable and the affected infants may show different clusters of abnormalities. A proposed classification identifies three distinct categories of this syndrome: type i (classic) is marked by prenatal growth deficiency becoming more severe after birth, moderate to profound psychomotor retardation, and severe malformations usually leading to disability or death; type ii (mild) is characterized by facial and skeletal abnormalities which are similar to those in type i but are much less severe, moderate pre- and postnatal growth retardation, and the absence of major malformations; and type iii in which phenotypic manifestations are related to chromosomal aneuploidies or teratogenic factors. The syndrome was first observed in amsterdam, hence its synonyms amsterdam dwarf, amsterdam type, and typus amstelodamensis. Manifestations of duplication of the long arm of chromosome 3 are similar to those in de lange syndrome. Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis, cleft palate, and urinary tract anomalies are more common in dup(3q). Most de lange syndrome patients have normal chromosomes.
  • A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.
  • A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.
  • A genetic syndrome caused by mutations in the ptpn11 gene (over 50% of the cases) or less frequently mutations in the sos1, raf1, or kras genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.
  • A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, cryptorchidism, multiple cardiac abnormalities (most commonly including pulmonary valve stenosis), and some degree of intellectual disability. The phenotype bears similarities to that of turner syndrome that occurs only in females and has its basis in a 45, x karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,xx and 46,xy). Mutations in a several genes (ptpn11, kras, sos1, nf1 and raf1) have been associated the the ns phenotype. Mutations in ptpn11 are the most common. Leopard syndrome, a disorder that has clinical features overlapping those of noonan syndrome, is also due to mutations in ptpn11. In addition, there is overlap with the syndrome called neurofibromatosis-noonan syndrome due to mutations in nf1.
  • A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ror2 gene. There is no causative mutation identified for the autosomal dominant form. It is manifested with short limbs, abnormal facial features, underdeveloped genitalia, and wedge-shaped vertebrae.
  • A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.
  • A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the nipbl gene. Less severe forms of the syndrome are caused by mutations in the smc1a and smc3 genes.
  • A syndrome characterized at birth by the lack of spontaneous movements and protective reflexes, thus giving an appearance of severe brain damage. Profound hypotonia may cause asphyxia. Sucking and swallowing reflexes are absent or decreased. Deficient thermoregulation, amyotonia, and hypogonadism are usually associated. After a few weeks or months, the affected infants become more responsive and more alert. Areflexia disappears gradually but hypotonia may persist longer. This phase is marked mainly by mental subnormality, delayed growth and motor development, speech defect, lack of emotional control, voracious appetite leading to obesity, hypotonia, hyperlaxity, delayed bone maturation, and multiple orofacial and other disoders. There is a tendency to develop diabetes mellitus and cardiac failure in some patients. Pain insensitivity is common. Prader-willi habitus associated with osteopenia and camptodactyly is known as the urban-rogers-meyer syndrome.
  • A syndrome characterized by growth retardation, severe mental retardation, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (menkes, textbook of child neurology, 5th ed, p231)
  • A syndrome characterized by multiple system abnormalities including dwarfism; photosensitivity disorders; premature aging; and hearing loss. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled dna repair processes. Cockayne syndrome is classified by the severity and age of onset. Type i (classical; csa) is early childhood onset in the second year of life; type ii (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum; xp) is late childhood onset with mild symptoms.
  • A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation. The syndrome is sometimes differentiated as type 1 or a (onset at age 2 years or later), type 2 or b (named later comfak, q.v.), and type 3 or c (considered as a part of xeroderma pigmentosum complementation group b).
  • A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema some features of this syndrome are similar to those in bloom and fetal alcohol syndromes.
  • A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait spots, digital anomalies, hip or elbow dislocations, and other abnormalities.
  • A syndrome of proportionate dwarfism, delayed mental development, microcephaly, and typical facial appearance marked by a birdlike protrusion of midfacial structures.
  • An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (uniparental disomy) which are imprinted (genetic imprinting) and hence silenced. Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence. (menkes, textbook of child neurology, 5th ed, p229)
  • An autosomal recessive syndrome caused by mutations in the ercc8 and ercc6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.
  • Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation; chromosomal disorder usually associated with a deletion of the proximal portion of the long arm of chromosome 15.
  • Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in genetic imprinting are involved. Hypomethylation of igf2/h19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of silver-russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause beckwith-wiedemann syndrome. Maternal uniparental disomy for chromosome 7 is known to play a role in its etiology.
  • Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation. The phenotype varies with age and postpuberal males have only minor remnant manifestations of the prepuberal phenotype.
  • Noonan syndrome caused by mutations in the ptpn11 gene.
  • Prader-willi syndrome (pws) is an uncommon genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with pws. They overeat, leading to obesity.babies with pws are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include
    • short stature
    • poor motor skills
    • weight gain
    • underdeveloped sex organs
    • mild mental retardation and learning disabilities
    there is no cure for pws. Growth hormone and exercise can help build muscle mass and control weight. nih: national institute of child health and human development
  • The cardinal features consist of characteristic (fetal-like) facies, mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal karyotype. Intelligence is usually normal but delayed physical and mental development was noted in about 18%.
Applicable To
  • Aarskog syndrome
  • Cockayne syndrome
  • De Lange syndrome
  • Dubowitz syndrome
  • Noonan syndrome
  • Prader-Willi syndrome
  • Robinow-Silverman-Smith syndrome
  • Russell-Silver syndrome
  • Seckel syndrome
Type 1 Excludes
  • Ellis-van Creveld syndrome (Q77.6)
  • Smith-Lemli-Opitz syndrome (E78.72)
Present On Admission
  • Q87.1 is considered exempt from POA reporting.
Mortality Data
  • Between 1999-2007 there were 446 deaths in the United States where ICD-10 Q87.1 was indicated as the underlying cause of death [source: cdc.govlink to cdc.gov]
  • ICD-10 Q87.1 as underlying cause of death data broken down by: gender, age, race, year
ICD-10-CM Q87.1 is grouped within Diagnostic Related Group(s) (MS-DRG v30.0):
  • 564 Other musculoskeletal sys & connective tissue diagnoses with mcc
  • 565 Other musculoskeletal sys & connective tissue diagnoses with cc
  • 566 Other musculoskeletal sys & connective tissue diagnoses without cc/mcc
Convert ICD-10-CM Q87.1 to ICD-9-CM
The following ICD-10-CM Index entries contain back-references to ICD-10-CM Q87.1:
  • Aarskog's syndrome Q87.1
  • Amsterdam dwarfism Q87.1
  • Bonnevie-Ullrich syndrome Q87.1
  • Bruck-de Lange disease Q87.1
  • Cockayne's syndrome Q87.1
  • Cornelia de Lange syndrome Q87.1
  • De Lange's syndrome Q87.1
  • Dubowitz' syndrome Q87.1
  • Noonan's syndrome Q87.1
  • Prader-Willi syndrome Q87.1
  • Robinow-Silvermann-Smith syndrome Q87.1
  • Russell-Silver syndrome Q87.1
  • Seckel's syndrome Q87.1
  • Silver's syndrome Q87.1
  • Sjögren-Larsson syndrome Q87.1
  • Syndrome - see also Disease
  • pseudo -Turner's Q87.1
  • Turner-like syndrome Q87.1
  • Ullrich (-Bonnevie)(-Turner) Q87.1
  • Weil (l) Q87.1