Also present were hypoplasia of the ilia, pubic and ischial bones, cataracts, anemia, and hepatomegaly, which were not previously reported in TD. One child died at 26 hours and the other was terminated at 22 weeks' gestation. [jim.bmj.com]

Metabolism Dysfunction Syndrome 4 (bilateral Striatal Degeneration and Progressive Polyneuropathy Type); THMD4 OMIM:614458 Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type); THMD5 OMIM:249270 Thiamine-Responsive Megaloblastic Anemia [informatics.jax.org]

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2; rts2 Related symptoms: Growth delay Cataract Anemia Frontal bossing Diarrhea SOURCES: ORPHANET More info about ROTHMUND-THOMSON SYNDROME TYPE 2 Top 5 symptoms// [mendelian.co]

Harris RE, Baehner RL, Gleiser S, Weaver DD, Hodes ME (1981) Cartilage-Hair hypoplasia defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Am J Med Genet 8:291–297 CrossRef PubMed Google Scholar 7. [link.springer.com]

Pulmonary hypoplasia, anemia, VSD and bicuspid aortic valve, strabismus, bilateral inguinal hernias, and hypospadias were present. A head MRI revealed third and lateral ventricle dilatation, small foramen magnum, and low cerebellar tonsils. [jim.bmj.com]

hernia Respiratory distress Proteinuria Respiratory tract infection Short foot Renal hypoplasia Coxa vara Stage 5 chronic kidney disease Functional respiratory abnormality Elevated serum creatinine Thoracic dysplasia Pes valgus Short iliac bones Short [mendelian.co]

congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic [bioreference.net]

Thrombocytopenia multiple congenital anomaly[?] Thrombocytopenia purpura[?] Thrombocytopenia Robin sequence[?] Thrombocytopenia[?] Thrombocytopenic purpura, autoimmune[?] Thrombocytosis[?] Thrombomodulin anomalies, familial[?] [encyclopedia.kids.net.au]

thumbs Trigonocephaly ptosis coloboma Trigonocephaly ptosis mental retardation Trigonomacrocephaly tibial defect polydactyly Trihydroxycholestanoylcoa oxidase isolated deficiency Trimethadione antenatal infection Trimethylaminuria Triopia Triose phosphate-isomerase [bioreference.net]

Trigonocephaly broad thumbs[?] Trigonocephaly ptosis coloboma[?] Trigonocephaly ptosis mental retardation[?] Trigonomacrocephaly tibial defect polydactyly[?] Trihydroxycholestanoylcoa oxidase isolated deficiency[?] [encyclopedia.kids.net.au]

thumbs Trigonocephaly ptosis coloboma Trigonocephaly ptosis mental retardation Trigonomacrocephaly tibial defect polydactyly Trihydroxycholestanoylcoa oxidase isolated deficiency Trimethadione antenatal infection Trimethylaminuria Triopia Triosephosphate [en.wikipedia.org]

Also present were hypoplasia of the ilia, pubic and ischial bones, cataracts, anemia, and hepatomegaly, which were not previously reported in TD. One child died at 26 hours and the other was terminated at 22 weeks' gestation. [jim.bmj.com]

[…] to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Frontal bossing and Hyperkeratosis, related diseases and genetic alterations Microphthalmia and Hepatic failure, related diseases and genetic alterations Hepatomegaly [mendelian.co]

Abstract Thanatophoric dysplasia (TD) is a lethal short-limbed skeletal dysplasia with characteristic findings of micromelia, bowed femurs, narrow thorax, and short ribs. [jim.bmj.com]

skeletal dysplasias in subsequent sections of this chapter. [radiologykey.com]

Recurrence of short rib polydactyly syndrome — a rare skeletal dysplasia. Eur J Obstet Gynecol Reprod Biol 2000; 89: 193–195. PubMed CrossRef Google Scholar 13. Lavanya R, Pratap K. Short rib polydactyly syndrome—a rare skeletal dysplasia. [link.springer.com]

Nearly 300 disorders are included in this entity; most of them are heritable diseases. 2 Although most of the diseases are rare, skeletal dysplasia as an entity is common. [mhmedical.com]

The Glasgow variant of TD was originally described in two female siblings with micromelia, curved femurs, mild platyspondyly, shortened ribs, and abnormal endochondral ossification, features also seen in TD. [jim.bmj.com]

[…] anomalies relatively normal trunk length narrow thorax due to short ribs (respiratory insufficiency) with protuberant abdomen wide-cupped costochondral junctions small abnormally formed scapulae short ribs small foramen magnum cloverleaf skull rarely severe platyspondyly [humpath.com]

Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). [ghr.nlm.nih.gov]

This disorder is characterized by extremely short stature, dark blue sclerae, severe limb deformity, multiple fractures of ribs, minimal calvarial mineralization, platyspondyly, and marked compression of long bones. [ncbi.nlm.nih.gov]

cloverleaf skull, very short extremities, small thorax) that raise the possible diagnosis of TD in a fetus not known to be at risk. Once a lethal skeletal dysplasia is identified prenatally, it is often difficult to pinpoint a specific diagnosis. [ncbi.nlm.nih.gov]

Pulmonary hypoplasia, anemia, VSD and bicuspid aortic valve, strabismus, bilateral inguinal hernias, and hypospadias were present. A head MRI revealed third and lateral ventricle dilatation, small foramen magnum, and low cerebellar tonsils. [jim.bmj.com]

Intellectual disability, moderate Coloboma Microcornea Long eyelashes Knee flexion contracture Chorioretinal coloboma Ventricular septal defect Precocious puberty Anophthalmia Retinal coloboma Sclerocornea Ectopia pupillae 2-3 toe syndactyly Monocular strabismus [mendelian.co]

Ectodermal abnormalities included fine, scant scalp hair, minimal body hair, delayed dental eruption, thin, brittle fingernails, and hypoplastic toenails. [jim.bmj.com]

We further expand the phenotype of the Glasgow variant of TD to include survival beyond infancy and ectodermal components and suggest that these factors be considered when counseling families about outcomes for patients with radiograph findings suggestive [jim.bmj.com]

Clubbing of the hand is very suggestive of “radial-ray” anomalies. [mafiadoc.com]

IFITM5, IFT172, INPPL1, KIAA0586, LBR, LEPRE1(P3H1), LIFR, NEK1, PEX7, PLOD2, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TMEM38B, TRIP11, TRPV4, TTC21B, WDR34, WDR35 Clinical Utility: Prenatal diagnosis in a fetus based on ultrasound findings suggestive [genedx.com]

A study by Martin et al suggested another mechanism for FGFR3 interference with the growth plate. [emedicine.medscape.com]