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
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

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
  • Hypothyroidism
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

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
  • Fatigue


SOURCES: ORPHANET MENDELIAN

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
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about THYROID ECTOPIA

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 MENDELIAN

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

Medium match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Medium match FAMILIAL THYROID DYSHORMONOGENESIS


Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL THYROID DYSHORMONOGENESIS

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
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Medium match ACHONDROGENESIS TYPE 1A


Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

Medium match ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY


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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

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

Symptoms // Phenotype % cases
Coarse facial features Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Large fontanelles Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Constipation 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


Hypothyroidism

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Abnormality of the face

Uncommon Symptoms - Between 30% and 50% cases


Macroglossia

Common Symptoms - More than 50% cases


Jaundice

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


Micromelia Lethal skeletal dysplasia Aplasia/Hypoplasia of the lungs Thickened nuchal skin fold Cystic hygroma Hydrops fetalis Flat face Micrognathia Narrow chest Polyhydramnios Congenital hypothyroidism Macrocephaly Frontal bossing Anteverted nares Abnormal enchondral ossification Short neck Short nose Femoral hernia Long philtrum Muscle weakness Thyroid agenesis Ectopic thyroid Abnormality of cardiovascular system morphology Recurrent fractures Intellectual disability, progressive Hypothalamic hypothyroidism Narcolepsy Hoarse cry Pseudohypoparathyroidism Pituitary hypothyroidism Severe postnatal growth retardation Hypopituitarism Wide anterior fontanel Postaxial hand polydactyly Short foot Omphalocele Disproportionate short-limb short stature Thoracic hypoplasia Abnormality of metabolism/homeostasis Depressed nasal bridge Generalized hypotonia Multiple rib fractures Short thorax Severe short stature Short palm Growth hormone deficiency Prenatal movement abnormality Goiter Microcephaly Hypoplasia of the corpus callosum Respiratory distress Respiratory insufficiency Ventriculomegaly Anemia Seizures Hypertonia Septo-optic dysplasia Central hypothyroidism Abnormality of the hypothalamus-pituitary axis Oral cleft Abnormality of the thyroid gland Thyroid hypoplasia Vomiting Myoclonus Oligodontia Muscle fibrillation Dry skin Lethargy Neoplasm Hearing impairment Fetal distress Enterocolitis Clonus Acidosis Postnatal microcephaly Brain atrophy Metabolic acidosis Poor speech Generalized tonic-clonic seizures Apnea Craniopharyngioma



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