Cardiocranial syndrome, Pfeiffer type

MedGen UID:: 346598
•Concept ID:: C1857495
•: Disease or Syndrome

Synonyms:	Cardiocranial syndrome; Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis; Pfeiffer Singer Zschiesche syndrome
SNOMED CT:	Cardiocranial syndrome Pfeiffer type (720606005); Craniosynostosis with congenital heart disease and intellectual disability syndrome (720606005); Pfeiffer Singer Zschiesche syndrome (720606005); Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis (720606005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0009036
OMIM®:	218450
Orphanet:	ORPHA2872

Definition

An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes. [from SNOMEDCT_US]

Clinical features

From HPO

Cryptorchidism

MedGen UID:: 8192
•Concept ID:: C0010417
•: Congenital Abnormality

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

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Microphallus

MedGen UID:: 66816
•Concept ID:: C0240701
•: Finding

Length of penis more than 2 SD below the mean for age accompanied by hypospadias.

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Micropenis

MedGen UID:: 1633603
•Concept ID:: C4551492
•: Congenital Abnormality

Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

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Abnormality of cardiovascular system morphology

MedGen UID:: 892473
•Concept ID:: C4049796
•: Congenital Abnormality

Any structural anomaly of the heart and great vessels.

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Abnormal heart morphology

MedGen UID:: 1002634
•Concept ID:: CN323669
•: Finding

Any structural anomaly of the heart.

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Growth delay

MedGen UID:: 99124
•Concept ID:: C0456070
•: Pathologic Function

A deficiency or slowing down of growth pre- and postnatally.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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Micrognathia