Abnormal facial shape, and Abdominal distention

Diseases related with Abnormal facial shape and Abdominal distention

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abdominal distention that can help you solving undiagnosed cases.


Top matches:

Medium match ATHYREOSIS

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Muscle weakness


SOURCES: ORPHANET

More info about ATHYREOSIS

Medium match PERIPHERAL RESISTANCE TO THYROID HORMONES

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Coarse facial features
  • Hypothyroidism


SOURCES: ORPHANET

More info about PERIPHERAL RESISTANCE TO THYROID HORMONES

Medium match THYROID HYPOPLASIA

Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Intellectual disability, severe


SOURCES: ORPHANET UMLS

More info about THYROID HYPOPLASIA

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Other less relevant matches:

Medium match THYROID ECTOPIA

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Muscle weakness


SOURCES: ORPHANET UMLS

More info about THYROID ECTOPIA

Medium match THYROID DYSHORMONOGENESIS 1; TDH1

Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see {188540}) stimulation.Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder. Genetic Heterogeneity of Thyroid DyshormonogenesisOther forms of thyroid hormone dysgenesis include TDH2A (OMIM ), caused by mutation in the thyroid peroxidase gene (TPO ) on 2p25; Pendred syndrome, a form of thyroid hormone dysgenesis associated with deafness (TDH2B ) and caused by mutation in the SLC26A4 gene (OMIM ) on 7q31; TDH3 (OMIM ), caused by mutation in the thyroglobulin gene (TG ) on 8q24; TDH4 (OMIM ), caused by mutation in the iodotyrosine deiodinase gene (IYD ) on 6q25; TDH5 (OMIM ), caused by mutation in the DUOXA2 gene (OMIM ) on 15q21; and TDH6 (OMIM ), caused by mutation in the DUOX2 gene (OMIM ) on 15q21.

THYROID DYSHORMONOGENESIS 1; TDH1 Is also known as thyroid hormonogenesis, genetic defect in, 1, hypothyroidism, congenital, due to dyshormonogenesis, 1, iodine accumulation, transport, or trapping defect;thyroid dyshormonogenesis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET UMLS

More info about THYROID DYSHORMONOGENESIS 1; TDH1

Medium match HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION

Hypothyroidism due to mutations in transcription factors involved in pituitary development or function 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 caused by disorders in the development or function of the pituitary.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET

More info about HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION

Medium match EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D

Early-onset vitamin B6-dependent epilepsy is an autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period or first months of life. The seizures show favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine. However, most patients show delayed psychomotor development (summary by Darin et al., 2016).

EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D Is also known as ;becrs; bects; bre; benign epilepsy of childhood with centrotemporal spikes; benign familial epilepsy of childhood with rolandic spikes; benign rolandic epilepsy; centrotemporal epilepsy

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: OMIM ORPHANET

More info about EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D

Medium match ACHONDROGENESIS TYPE 2

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Short neck
  • Frontal bossing
  • Anteverted nares


SOURCES: ORPHANET

More info about ACHONDROGENESIS TYPE 2

Medium match INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as ipox, congenital idiopathic intestinal pseudoobstruction;ciip, ciip, x-linked;ciipx, intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: UMLS MONDO OMIM MESH GARD

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4

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.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 Is also known as thyrotropin deficiency, isolated, thyroid-stimulating hormone deficiency, tsh deficiency, pituitary cretinism;isolated tsh deficiency; isolated thyrotropin deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Muscular hypotonia
  • Milia
  • Depressed nasal bridge


SOURCES: OMIM GARD MONDO UMLS DOID ORPHANET

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abdominal distention

Symptoms // Phenotype % cases
Coarse facial features Common - Between 50% and 80% cases
Constipation Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Large fontanelles Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abdominal distention. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormality of the face

Uncommon Symptoms - Between 30% and 50% cases


Macroglossia

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Jaundice

Common Symptoms - More than 50% cases


Umbilical hernia

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Short stature Intellectual disability, severe Feeding difficulties Growth delay Autosomal recessive inheritance Sleep disturbance Intellectual disability Hypersomnia

Rare Symptoms - Less than 30% cases


Thyroid agenesis Seizures Ectopic thyroid Vomiting Congenital hypothyroidism Muscle weakness Lipoma Pyloric stenosis Intestinal malrotation Smooth philtrum Hydronephrosis Feeding difficulties in infancy X-linked recessive inheritance Patent ductus arteriosus Infantile onset Thrombocytopenia Thickened nuchal skin fold Downslanted palpebral fissures Low-set ears Failure to thrive Hypertelorism Abnormal enchondral ossification Lethal skeletal dysplasia Femoral hernia Multiple lipomas Aplasia/Hypoplasia of the lungs Spastic diplegia Growth hormone deficiency Arthropathy Wide anterior fontanel Hypothalamic hypothyroidism Hoarse cry Narcolepsy Pseudohypoparathyroidism Pituitary hypothyroidism Severe postnatal growth retardation Hypopituitarism Hypoparathyroidism Intellectual disability, progressive Omphalocele Intestinal obstruction Thoracic hypoplasia Abnormality of metabolism/homeostasis Depressed nasal bridge Milia Generalized hypotonia Increased size of the mandible Congenital shortened small intestine Increased mean platelet volume Intestinal pseudo-obstruction Volvulus Cystic hygroma Macrocephaly Disproportionate short-limb short stature Septo-optic dysplasia Acidosis Myoclonus Respiratory distress Hypertonia Respiratory insufficiency Hypoplasia of the corpus callosum Ventriculomegaly Anemia Microcephaly Central hypothyroidism Clonus Abnormality of the hypothalamus-pituitary axis Oral cleft Goiter Oligodontia Dry skin Lethargy Neoplasm Abnormality of the thyroid gland Thyroid hypoplasia Apnea Pruritus Hydrops fetalis Frontal bossing Postaxial hand polydactyly Flat face Narrow chest Micromelia Polyhydramnios Abnormality of cardiovascular system morphology Long philtrum Short nose Anteverted nares Short neck Metabolic acidosis Micrognathia Prenatal movement abnormality Fetal distress Enterocolitis Muscle fibrillation Colitis Postnatal microcephaly Brain atrophy Poor speech Craniopharyngioma



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