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Neurodevelopmental disorder with alopecia and brain abnormalities(NEDABA; BABS)

MedGen UID:
1775930
Concept ID:
C5436741
Disease or Syndrome
Synonyms: Bachmann-Bupp syndrome; Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
SNOMED CT: Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (1222658006); Bachmann Bupp syndrome (1222658006); Ornithine decarboxylase deficiency (1222658006)
 
Gene (location): ODC1 (2p25.1)
 
Monarch Initiative: MONDO:0033642
OMIM®: 619075
Orphanet: ORPHA544488

Disease characteristics

Excerpted from the GeneReview: Bachmann-Bupp Syndrome
Bachmann-Bupp syndrome (BABS) is characterized by a distinctive type of alopecia, global developmental delay in the moderate to severe range, hypotonia, nonspecific dysmorphic features, behavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder) and feeding difficulties. Hair is typically present at birth but may be sparse and of an unexpected color with subsequent loss of hair in large clumps within the first few weeks of life. Rare findings may include seizures with onset in later childhood and conductive hearing loss. [from GeneReviews]
Authors:
Caleb Bupp  |  Julianne Michael  |  Elizabeth VanSickle, et. al.   view full author information

Additional description

From OMIM
Bachmann-Bupp syndrome (BABS) is a neurometabolic disorder associated with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, dysmorphic features, and characteristic neuroimaging features (summary by Rodan et al., 2018).  http://www.omim.org/entry/619075

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).
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Dilation of Virchow-Robin spaces
MedGen UID:
342926
Concept ID:
C1853618
Finding
Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.
Large for gestational age
MedGen UID:
341215
Concept ID:
C1848395
Finding
The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Cupped ear
MedGen UID:
335186
Concept ID:
C1845447
Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Lower limb spasticity
MedGen UID:
220865
Concept ID:
C1271100
Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Periventricular cysts
MedGen UID:
326980
Concept ID:
C1839858
Finding
Dysgenesis of the cerebellar vermis
MedGen UID:
871238
Concept ID:
C4025719
Anatomical Abnormality
Defective development of the vermis of cerebellum.
Focal polymicrogyria
MedGen UID:
1703574
Concept ID:
C5139365
Congenital Abnormality
Polymicrogyria affecting one or multiple small areas of the cerebral cortex.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within the cerebrum.
Macrocephaly at birth
MedGen UID:
322956
Concept ID:
C1836599
Finding
The presence of an abnormally large skull with onset at birth.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Absent eyebrow
MedGen UID:
98133
Concept ID:
C0431448
Congenital Abnormality
Absence of the eyebrow.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Keratosis pilaris
MedGen UID:
82664
Concept ID:
C0263383
Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeurodevelopmental disorder with alopecia and brain abnormalities

Professional guidelines

PubMed

Matza Porges S, Mor-Shaked H, Shaag A, Porat S, Daum H
Eur J Med Genet 2023 Oct;66(10):104825. Epub 2023 Sep 1 doi: 10.1016/j.ejmg.2023.104825. PMID: 37659595
VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW, Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH, Bupp CP
Am J Med Genet A 2021 Nov;185(11):3485-3493. Epub 2021 Sep 3 doi: 10.1002/ajmg.a.62473. PMID: 34477286Free PMC Article

Recent clinical studies

Etiology

Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG
Arq Neuropsiquiatr 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. PMID: 27487380
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
Brain 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26 doi: 10.1093/brain/aws065. PMID: 22451504Free PMC Article
Wessel HB, Barmada MA, Hashida Y
Pediatr Neurol 1987 Mar-Apr;3(2):101-7. doi: 10.1016/0887-8994(87)90037-3. PMID: 3334010
UCHIDA IA, MCRAE KN, RAY M
Am J Hum Genet 1965 Sep;17(5):410-9. PMID: 14334740Free PMC Article

Diagnosis

Matza Porges S, Mor-Shaked H, Shaag A, Porat S, Daum H
Eur J Med Genet 2023 Oct;66(10):104825. Epub 2023 Sep 1 doi: 10.1016/j.ejmg.2023.104825. PMID: 37659595
Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS
Clin Genet 2023 Sep;104(3):344-349. Epub 2023 May 9 doi: 10.1111/cge.14348. PMID: 37157980Free PMC Article
Abusrair AH, Bohlega S, Al-Semari A, Al-Ajlan FS, Al-Ahmadi K, Mohamed B, AlDakheel A
AJNR Am J Neuroradiol 2018 Dec;39(12):2256-2262. Epub 2018 Nov 8 doi: 10.3174/ajnr.A5879. PMID: 30409855Free PMC Article
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG
Arq Neuropsiquiatr 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. PMID: 27487380
Schepis C, Greco D, Romano C
Australas J Dermatol 1999 May;40(2):111-3. doi: 10.1046/j.1440-0960.1999.00333.x. PMID: 10333626

Therapy

VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW, Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH, Bupp CP
Am J Med Genet A 2021 Nov;185(11):3485-3493. Epub 2021 Sep 3 doi: 10.1002/ajmg.a.62473. PMID: 34477286Free PMC Article

Prognosis

Abusrair A, AlHamoud I, Bohlega S
J Clin Neurophysiol 2022 Sep 1;39(6):504-509. Epub 2020 Dec 30 doi: 10.1097/WNP.0000000000000811. PMID: 33417382
Louro P, Durães J, Oliveira D, Paiva S, Ramos L, Macário MC
Am J Med Genet A 2019 Nov;179(11):2237-2240. Epub 2019 Jul 26 doi: 10.1002/ajmg.a.61303. PMID: 31347785
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
Brain 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26 doi: 10.1093/brain/aws065. PMID: 22451504Free PMC Article
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442

Clinical prediction guides

Abusrair A, AlHamoud I, Bohlega S
J Clin Neurophysiol 2022 Sep 1;39(6):504-509. Epub 2020 Dec 30 doi: 10.1097/WNP.0000000000000811. PMID: 33417382
Abusrair AH, Bohlega S, Al-Semari A, Al-Ajlan FS, Al-Ahmadi K, Mohamed B, AlDakheel A
AJNR Am J Neuroradiol 2018 Dec;39(12):2256-2262. Epub 2018 Nov 8 doi: 10.3174/ajnr.A5879. PMID: 30409855Free PMC Article
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442
Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, Arcas J, Lopez-Martin V, Tendero A, Esquiroz JL, Pascual-Pascual SI
Brain Dev 1998 Jan;20(1):36-43. doi: 10.1016/s0387-7604(97)00097-1. PMID: 9533559

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