Abnormal facial shape, and Constipation

Diseases related with Abnormal facial shape and Constipation

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 99; MRX99


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 99; MRX99

Low 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

Low match HYPERKALEMIC PERIODIC PARALYSIS; HYPP


The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.

HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia|gamstorp disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS; HYPP

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Other less relevant matches:

Low match PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC


PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC Is also known as paralysis periodica paramyotonica

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

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 FG SYNDROME 2; FGS2


Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

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

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Constipation

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Large fontanelles Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the face Macroglossia Coarse facial features Muscular hypotonia Hypothyroidism Abdominal distention Growth delay Muscle weakness Intellectual disability, severe Intellectual disability Umbilical hernia Jaundice

Rare Symptoms - Less than 30% cases


Lid lag on downgaze Generalized muscle weakness Neonatal hypotonia Sleep disturbance Seizures Periodic hyperkalemic paralysis Periodic paralysis Loss of consciousness Skeletal muscle hypertrophy Myotonia Muscle stiffness Paralysis Delayed speech and language development Prominent forehead Relative macrocephaly Fatigue Hypersomnia Microcephaly Pain Macrocephaly Abnormality of the pinna Underdeveloped superior crus of antihelix Ectodermal dysplasia Inability to walk Hyperactivity Protruding ear Anteriorly placed anus Large forehead Frontal upsweep of hair Ectopic thyroid Prolonged neonatal jaundice Large posterior fontanelle Abnormality of the thyroid gland Absent speech Strabismus Abnormality of eye movement Visual impairment Hypoplasia of the corpus callosum Abnormality of the eye Cerebellar atrophy EEG abnormality Gastroesophageal reflux Abnormal heart morphology Myalgia Frontal bossing Progressive muscle weakness Aggressive behavior Joint hypermobility Broad thumb Thyroid agenesis Skeletal muscle atrophy Myopathy Clinodactyly Ketosis Episodic flaccid weakness Elevated serum creatine phosphokinase Laryngomalacia Failure to thrive Stridor Hyperkalemia Hand muscle weakness Inspiratory stridor Percussion myotonia Handgrip myotonia Neonatal inspiratory stridor Paradoxical myotonia Thyroid hypoplasia Hypertelorism Postnatal microcephaly



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