[…] dysplasia Missouri type BOR-Duane hydrocephalus contiguous gene syndrome Pelger-Huet anomaly Spastic paraplegia 32 Congenital bile acid synthesis defect, type 2 Oto-palato-digital syndrome type 2 High molecular weight kininogen deficiency His bundle tachycardia [checkrare.com]

Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. [ajol.info]

No sweat glands were seen in either of the specimens. [njcponline.com]

[…] chloride 2 613021 Pseudohypoaldosteronism, type I 264350 S CNN1B 16p12.2 Bronchiectasis with or without elevated sweat chloride 1 211400 Liddle syndrome 177200 Pseudohypoaldosteronism, type I 264350 S CNN1G 16p12.2 Bronchiectasis with or without elevated [institutobernabeu.com]

Methylmalonic aciduria, cblA type Dwarfism Microcephaly-albinism-digital anomalies syndrome Tyrosinemia type 2 Osteopetrosis autosomal recessive 1 Noonan syndrome Nathalie syndrome Familial hypocalciuric hypercalcemia type 1 Myosin storage myopathy Vibratory urticaria [checkrare.com]

Keywords : Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears African Health Sciences Vol. 5 (3) 2005: pp. 270-275 [ajol.info]

Keywords : Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears [africanhealthsciences.org]

Recurrence of the condition in sibs of both sexes suggests autosomal recessive inheritance. Recurrent amelia has been documented in only a few families most often associated with a different set of malformations. [ncbi.nlm.nih.gov]

's report had an affected mother, suggesting the x-linked variant of HED. [1] Also, there was no history suggestive of consanguinity from these reports. [1], [2] Reports of autosomal dominant traits have been made. [7] We, therefore, describe a set of [njcponline.com]

The Q83X mutation truncates WNT3 at its amino terminus, suggesting that loss of function is the most likely cause of the disorder. Our findings contrast with the observation of early lethality in mice homozygous for null alleles of Wnt3. [uniprot.org]

Several other pieces of evidence suggest that Adams-Oliver syndrome is not merely a syndrome, but a constellation of clinical findings resulting from an early embryonic vascular abnormality (Swartz et al. 1999). [rrnursingschool.biz]

Take a detailled a history in relation to hemostasis (easily bleeding, epistaxis, menorrhagia etc) and skin fragility. [sites.uclouvain.be]

Autosomal Recessive: 60 33 (show all 14) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 full cheeks 60 33 hallmark (90%) Very frequent (99-80%) HP:0000293 2 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347 3 cryptorchidism [malacards.org]

[…] atresia Short neck Hypertelorism Sprengel anomaly Conductive hearing impairment Cleft upper lip Respiratory insufficiency Cervical C2/C3 vertebral fusion Growth delay Abnormal facial shape Pulmonary hypoplasia Patent ductus arteriosus Atrial septal defect Cryptorchidism [mendelian.co]

[…] syndrome Congenital central hypoventilation syndrome Alternating hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis type Timothy syndrome Myokymia with neonatal epilepsy Hyperthermia induced defects Torticollis keloids cryptorchidism [checkrare.com]

Colitis. Collagenopathy, types II and XI. Coloboma. Color blindness. Combined pituitary hormone deficiency. Cone-rod dystrophy. Congenital adrenal hyperplasia. Congenital contractural arachnodactyly. Congenital heart disease. [cengage.com]