Generalized hypotonia, and Umbilical hernia

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome|central hypothyroidism due to trh receptor deficiency

• Global developmental delay
• Generalized hypotonia
• Growth delay
• Muscular hypotonia
• Feeding difficulties

SOURCES: ORPHANET MENDELIAN

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MENDELIAN

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Muscle weakness
• Flexion contracture

SOURCES: OMIM ORPHANET MENDELIAN

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

• Generalized hypotonia
• Muscular hypotonia
• Feeding difficulties
• Depressed nasal bridge
• Fatigue

SOURCES: ORPHANET OMIM MENDELIAN

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

• Intellectual disability
• Short stature
• Generalized hypotonia
• Growth delay
• Muscular hypotonia

SOURCES: OMIM MENDELIAN

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

• Short stature
• Generalized hypotonia
• Failure to thrive
• Anemia
• Hypertension

SOURCES: ORPHANET OMIM MENDELIAN

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

• Intellectual disability
• Seizures
• Short stature
• Generalized hypotonia
• Scoliosis

SOURCES: ORPHANET OMIM MENDELIAN

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

• Short stature
• Generalized hypotonia
• Scoliosis
• Micrognathia
• Muscle weakness

SOURCES: OMIM ORPHANET MENDELIAN

• Seizures
• Generalized hypotonia
• Hearing impairment
• Abnormal facial shape
• Ptosis

SOURCES: OMIM MENDELIAN

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

• Global developmental delay
• Generalized hypotonia
• Micrognathia
• Delayed speech and language development
• Motor delay

SOURCES: OMIM MENDELIAN