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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio
Genus database
8251
ectodermal dysplasia-hypothyroidism-ciliary dyskinesia
Eponyms:
Inheritance:
HEDH syndrome
supposed autosomal recessive
Semeiological Cutaneous-endocrinal disorder. Primary hypothyroidism, ectodermal dysplasia with normal teeth, recurrent
respiratory infections due to bronchus ciliary changes.
Synthesis:
Group
Sub group
Signs:
DERMATOLOGICAL DISORDERS
cutis, changes in appearance and/or features
cutis, dry
isolated dermatological disorders
dermatitis
urticaria
ectodermal dysplasia
ectodermal dysplasia, anhydrotic,
hypohydrotic
hair, changes
hair, brittle
hair, sparse not including alopecia totalis
nail changes
nails and/or toenails, dysplastic, brittle nails,
onychodystrophy
pigmentation changes
cutis, hyperpigmentation
ENDOCRINOLOGICAL, METABOLIC DISORDERS
thyroid, changes
hypothyroidism, not including: goiter, thyroid
aplasia
GENITAL DISORDERS
breast, changes
breast, hypoplasia
LABORATORY DATA
biochemical markers
metabolic defect
infective agents
bacterial infections
recurrent infections, without specific
humoral/cellular immunity
plasma proteins, anomalies
hormones, dysfunctions
immune and immune-complex disease
OCULAR DISORDERS
eyelids, anomalies
eyelashes, long
lacrimal gland-sac, defects
duct defect, puncta defects, lacrimal canalis
defect, tear duct defects
OROCRANIOFACIAL ANOMALIES
forehead-orbital region, changes
eyebrows, sparse
OTHERS
supergroups
cutaneous-genito-skeletal disorders
RESPIRATORY DISORDERS
respiratory distress
respiratory infections, recurrent, including
pneumonitis
respiratory structures, thorax defect
bronchiectasis, bronchomegaly
ciliary changes
ectodermal dysplasia-hypothyroidism-ciliary dyskinesia
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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio
Genus database
SKELETAL DISORDERS
stature, growth, modified habitus
stature, short, including micromelia, including
short limbs
Super group:
cutaneous-genito-skeletal disorders
Super aggreg. ECTODERMAL DYSPLASIA
ectodermal dysplasia, anhydrotic-hypohydrotic
Aggregations:
INFECTIONS SUSCEPTIBILITY
recurrent infections, without specific humoral/cellular immunity
METABOLIC DISORDERS
hormones, dysfunctions
immune and immune-complex diseases
OTHER
isolated dermatological disorders
Differential
diagnosis:
Bibliography
1890 ANOTHER syndrome
25397 thyroid hormonogenesis defect I
25425 thyrotropin-releasing hormone, deficiency
OMIM ID: 225050
ectodermal dysplasia-hypothyroidism-ciliary dyskinesia
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