Showing of 17 80%-99% of people have these symptoms Abnormality of the ribs Rib abnormalities 0000772 Coarse facial features Coarse facial appearance 0000280 Craniofacial hyperostosis Excessive bone growth of the skull and face 0004493 Depressed nasal [rarediseases.info.nih.gov]

distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. [amp.pharm.mssm.edu]

distress, Basal ganglia calcification. [pentacorelab.hu]

nose, broad flat nasal bridge, choanal stenosis, increased intracranial pressure, headaches, seizures, mental retardation (however, in the majority of cases developmental progress was normal until hindered by progressive deterioration in vision and hearing [iofbonehealth.org]

[…] respond to the administration of synthetic calcitonin but, in some cases, it was discovered that the head circumference had actually decreased; unfortunately, the therapy with synthetic calcitonin leads to a wide range of side-effects, such as nausea, vomiting [healthh.com]

[…] combined immunodeficiency disease Dihydropyrimidinase deficiency Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting [amp.pharm.mssm.edu]

Severe congenital neutropenia 6, autosomal recessive Dyggve-Melchior-Clausen syndrome Congenital disorder of glycosylation type 1Q Cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure [amp.pharm.mssm.edu]

Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.es]

[…] proportionate with hip dislocation Fibular aplasia ectrodactyly Deafness, dystonia, and cerebral hypomyelination Potocki-Shaffer syndrome Brachydactyly elbow wrist dysplasia Keratoderma palmoplantar spastic paralysis Agammaglobulinemia, microcephaly, and severe dermatitis [checkrare.com]

nasal root [ more ] 0005280 Diaphyseal thickening Thickening of shaft or central part of long bones 0005019 Frontal bossing 0002007 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more [rarediseases.info.nih.gov]

Craniodiaphyseal dysplasia Symptoms and Signs CDD patients appear to have abnormal rib structure, broad nose, coarse face, dense/thickened skull, depressed nasal bridge, enlarged diaphysis, and enlarged jaw. [illnessopedia.org]

In some cases, a postural defect in the metaphyses may also be noted. Craniodiaphyseal dysplasia Causes It is supposed to be hereditary, although the underlying genetics is unclear. The disease is acquired in an autosomal recessive fashion. [primehealthchannel.com]

defect in the metaphyses Some of the complications of CDD are severe facial deformity, facial diplegia, complete hearing inability, nasolacrimal obstruction, quadriparesis, significant brain compression, mechanical damage of nerve fibers and deformation [ehealthhall.com]

DOI Download Citation Supplementary Material E-Mail Print Share: METRICS 792 View 0 Download A case of glycogen storage disease type Ib 2009 December;52(12) A case of Hallermann-Streiff syndrome with aphakia 2008 June;51(6) A case of idiopathic renal hypouricemia [kjp.or.kr]

[…] dislocation Fibular aplasia ectrodactyly Deafness, dystonia, and cerebral hypomyelination Potocki-Shaffer syndrome Brachydactyly elbow wrist dysplasia Keratoderma palmoplantar spastic paralysis Agammaglobulinemia, microcephaly, and severe dermatitis Renal hypouricemia [checkrare.com]

Hydatidiform mole, recurrent, 2 Groenouw corneal dystrophy type I Pyogenic arthritis, pyoderma gangrenosum and acne Familial renal hypouricemia Aminoadipic aciduria ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Beta-hexosaminidase a, pseudodeficiency [amp.pharm.mssm.edu]