Abnormal facial shape, and Jaundice

Diseases related with Abnormal facial shape and Jaundice

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


Top matches:

Low 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

Low 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

Low match RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME


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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

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Other less relevant matches:

Low match CCDC115-CDG


Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CCDC115-CDG

Low 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

Low 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

Low 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

Low match PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Low match PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

Low 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 Jaundice

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

Patients with Abnormal facial shape and Jaundice. 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


Feeding difficulties

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Macroglossia

Common Symptoms - More than 50% cases


Umbilical hernia

Uncommon Symptoms - Between 30% and 50% cases


Abdominal distention Generalized hypotonia Sleep disturbance Short stature Growth delay Fatigue Hepatomegaly Seizures Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Prolonged neonatal jaundice High forehead Intellectual disability Congenital hypothyroidism Hypersomnia Flat occiput Ectopic thyroid Polymicrogyria Abnormality of neuronal migration Long philtrum Talipes equinovarus High palate Low-set ears Cataract Abnormality of the nasal bridge Nystagmus Neonatal hyperbilirubinemia Hyperbilirubinemia Heterotopia Delayed closure of the anterior fontanelle Posterior embryotoxon Central hypotonia Dicarboxylic aciduria Depressed nasal bridge Posteriorly rotated ears Wide anterior fontanel Hypothalamic hypothyroidism Narcolepsy Hoarse cry Pseudohypoparathyroidism Pituitary hypothyroidism Severe postnatal growth retardation Hypopituitarism Intellectual disability, progressive Omphalocele Talipes Growth hormone deficiency Abnormality of metabolism/homeostasis Cyanosis Generalized neonatal hypotonia Cardiorespiratory arrest Epiphyseal stippling Bilateral talipes equinovarus Severe muscular hypotonia Flat face Cholestasis Oligodontia Aciduria Elevated hepatic transaminase Abnormal glycosylation Increased LDL cholesterol concentration Cholestatic liver disease Hypercholesterolemia Hepatic failure Long face Cirrhosis Hepatosplenomegaly Decreased serum ceruloplasmin Elevated serum creatine phosphokinase Splenomegaly Downslanted palpebral fissures Skeletal muscle atrophy Ptosis Large posterior fontanelle Thyroid hypoplasia Elevated alkaline phosphatase of bone origin Copper accumulation in liver Triangular face Goiter Dolichocephaly Abnormality of the eye Muscular hypotonia of the trunk Abnormality of the nervous system Wide nasal bridge Micrognathia Thyroid agenesis Dry skin Muscle weakness Lethargy Neoplasm Hearing impairment Septo-optic dysplasia Central hypothyroidism Abnormality of the hypothalamus-pituitary axis Oral cleft Abnormality of the thyroid gland Craniopharyngioma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Agenesis of corpus callosum, related diseases and genetic alterations Macrocephaly and Abdominal distention, related diseases and genetic alterations Depressed nasal bridge and Premature birth, related diseases and genetic alterations Immunodeficiency and Pectus carinatum, related diseases and genetic alterations Abnormal facial shape and Hematuria, related diseases and genetic alterations Generalized hypotonia and Febrile seizures, related diseases and genetic alterations

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