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ABCD syndrome(ABCDS)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: ABCDS; Albinism, Black lock, Cell migration disorder of the neurocytes of the gut and Deafness
Gene (location): EDNRB (13q22.3)
Monarch Initiative: MONDO:0010895
OMIM®: 600501
Orphanet: ORPHA918


ABCD syndrome (ABCDS) is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and deafness (summary by Verheij et al., 2002). [from OMIM]

Clinical features

From HPO
Large for gestational age
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The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
Hearing impairment
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Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Aganglionic megacolon
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Disease or Syndrome
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32. HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880). Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).
Aganglionosis, total intestinal
MedGen UID:
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Congenital Abnormality
A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.
Abnormal auditory evoked potentials
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Concept ID:
An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
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Concept ID:
Disease or Syndrome
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
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Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
White eyelashes
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White color (lack of pigmentation) of the eyelashes.
White eyebrow
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White color (lack of pigmentation) of the eyebrow.
Hypopigmentation of the fundus
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Disease or Syndrome
Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).

Professional guidelines


Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536
Mechanick JI, Apovian C, Brethauer S, Garvey WT, Joffe AM, Kim J, Kushner RF, Lindquist R, Pessah-Pollack R, Seger J, Urman RD, Adams S, Cleek JB, Correa R, Figaro MK, Flanders K, Grams J, Hurley DL, Kothari S, Seger MV, Still CD
Endocr Pract 2019 Dec;25(12):1346-1359. Epub 2019 Nov 4 doi: 10.4158/GL-2019-0406. PMID: 31682518
Savage MW, Dhatariya KK, Kilvert A, Rayman G, Rees JA, Courtney CH, Hilton L, Dyer PH, Hamersley MS; Joint British Diabetes Societies
Diabet Med 2011 May;28(5):508-15. doi: 10.1111/j.1464-5491.2011.03246.x. PMID: 21255074

Recent clinical studies


Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM
Am J Med Genet 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172. PMID: 11891690


Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM
Am J Med Genet 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172. PMID: 11891690
Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M
Am J Med Genet 1995 Apr 10;56(3):322-6. doi: 10.1002/ajmg.1320560322. PMID: 7778600

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