Similar Syndromes

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Similar syndromes

Many X-linked chromosomal defects have overlapping characteristics making diagnosis difficult. The characteristics also tend to vary considerably from individual to individual. Tapered fingers can occur in any of the following conditions:

	Chromosome 22q deletion syndrome Deletion of the long arm of chromosome 22 with variable dysmorphic features consisting of a round face, almond-shaped palpebral fissures, bulbous nose, malformed ears, hypotonia, short stature, mental retardation, and other anomalies. Deletion of the proximal long arm of chromosome 22 (22q11) has been associated with familial DiGeorge and velocardiofacial syndromes and terminal deletion was found in Goldenhar syndrome. Abnormalities of chromosome 22 are also suspected of being involved in the etiology of neoplastic diseases.
	Borjeson-Forssman-Lehmann syndrome (BFLS). BFLS is a rare X-linked condition that is characterised by moderate to severe developmental delay, tapered fingers, prominent ear lobes and small genitalia. Other features usually seen in BFLS include epilepsy and wide gaps between the toes.
	Chromosome 18q deletion syndrome Deletion of the long arm of chromosome 18 with a phenotype that may vary considerably, depending on the type of deletion and location of the breakpoint. The syndrome is marked mainly by mental retardation, midface hypoplasia, deeply set eyes, carp mouth, mild obesity, ataxia, hypotonia, malformed ears, and hyperactive and aggressive behavior. Neoplastic diseases may occur.
	Chromosome 17p deletion syndrome  Duplication of the short arm of chromosome 17 with delayed psychomotor development, craniofacial abnormalities (narrow downslanting palpebral fissures, microcephaly, hypertelorism, and malformed ears), digital anomalies, and other congenital defects. Expression varies with the karyotype.
	Chromosome 3q duplication syndrome Duplication of the long arm of chromosome 3 with psychomotor retardation, characteristic facies, congenital heart anomalies, abnormal dermatoglyphic patterns, skeletal defects, and other abnormalities. The syndrome was first reported as familial de Lange syndrome (1) with chromosomal abnormalities. Manifestations of dup(3q) 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, whereas craniosynostosis, cleft palate, and urinary tract anomalies are more common in dup(3q).
	Filippi syndrome A craniodigital syndrome characterized by unusual facial appearance with microcephaly, high frontal hairline, thin nose with deep epicanthal folds, and short palpebral fissures in association with cleft palate, digital anomalies, and developmental delay.
	Fine-Lubinsky syndrome A dysmorphic syndrome with variable expression characterized mainly by body asymmetry, developmental delay, brachycephaly, cataracts, and deafness.
	Hischsprung disease-microcephaly-mental retardation-characteristic facies syndrome Hirschsprung disease (megacolon due to agangliosis) associated with microcephaly, mental retardation, short stature, and facial dysmorphism.
	Schinzel syndrome 1 Absence of the corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces, and polydactyly.
	Arthrogryposis Multiplex Congenita (AMC) Arthrogryposis marked by congenital contractures involving two or more different joints with ankylosis, hypoplasia of the attached musculature, and multiple pterygia. Several types are recognized: Myopathic type is relatively rare and is characterized by muscle changes with fixed flexion deformities of the limbs and gross deformities of the chest and spine. Nuropathic type presents fixed extension or flexion deformities of the limbs. Distal type affects the distal portions of the extremities. Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal arthrogryposis are recognized: 1. Lethal form with severe contractures, scoliosis, chest deformities, micrognathia, and death by age of 3 months. Psychomotor retardation may occur. 2. A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3. A sporadic form with mild symptoms which gradually improve, which is manifested main by moderate contractures and normal intelligence. Type I involves primarily the distal parts of the hands and feet and is characterized by overlapping fingers, clenched fists, ulnar deviation of the fingers, camptodactyly, positional foot anomalies, and generally normal intelligence. Type II is divided into several subtypes and, in addition to arthrogryposis, has a variety of associated findings, including short stature, cleft lip and/or palate, scoliosis, trismus, and dull intellect.

General Info on Disabilities and Retardation

	Special Needs Answers A community resource provided by the Academy of Special Needs Planners - great all-purpose site.
	Developmental Disabilities Resource Center
	Developmental Delay Resources (DDR)
	Handitel disability database  Large directory of sites related to Mental Retardation in the United States and throughout the world.
	The United States International Council on Mental Retardation and Developmental Disabilities A non-profit organization concerned with a broad array of international issues relating to children and adults with mental retardation and developmental disabilities, their families, and the professionals who work with them.
	NPND Home Page National Parent Network on Disabilities (NPND). Has lots of links for disability info.
	Association for Retarded Citizens Publications from ARC
	Family village  A global community of disability-related resources
	Exceptional parent magazine  Exceptional Parent Magazine's online resource

Problem Behaviors

	Emotional and Behavioral Health in Persons with Mental Retardation/Developmental Disabilities
	Bedwetting Published by the Enuresis Clinic at the Alfred I. duPont Hospital for Children.

Medical and Health Information

	Healthsquare Information on prescription drugs.
	Drug Interactions Checker Type in combinations of drugs and see how they interact with each other; the site will also tell you what foods interact with those same drugs.
	Scoliosis research society
	Kidshealth.org - A guide to Scoliosis
	Healthlink.mcw.edu - Agenesis of the Corpus Callosum
	Malocclusion and Orthodontics overview  Includes pictures of different forms of malocclusion.
	Attention Deficit Disorder
	Sleep Disorders Guide  A comprehensive information guide about sleep disorders. Descriptions, symptoms, causes, treatments of various sleep disorders like sleep apnea, night terrors, snoring, restless legs and narcolepsy.
	Gait Disorders and Drop Attacks
	Women's Health Resources - lots of links to information for and about developmentally disabled women. aging and general health mental health/violence and abuse sexuality and reproductive health

Parenting

	Brooks Publishing Company
	The Disability Resource Online Book Store
	Special Education Resources on the Internet
	MUMS - Mothers United For Moral Support Home Page
	NORD - National Organization of Rare Diseases Home Page