Abnormal facial shape, and Dry skin

Diseases related with Abnormal facial shape and Dry skin

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


Top matches:

Medium match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Medium match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

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

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Other less relevant matches:

Medium match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Medium match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Medium match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Medium match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Medium match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Medium match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dry skin

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neutropenia Coarse facial features Muscle weakness Recurrent infections Immunodeficiency Muscular hypotonia Hyperkeratosis Generalized hypotonia

Rare Symptoms - Less than 30% cases


Abnormality of the face Anemia Intrauterine growth retardation Neoplasm Growth delay Diarrhea Hypothyroidism Eczema Respiratory tract infection Peripheral axonal neuropathy Thrombocytopenia Lymphopenia Cataract Erythroderma Thickened skin Sensorineural hearing impairment Fever Hepatomegaly Polyneuropathy Intellectual disability Failure to thrive Ataxia Dysarthria Atopic dermatitis Constipation Glaucoma Papule Inflammatory abnormality of the skin Abnormality of the dentition Edema Hyporeflexia Abnormality of the skeletal system Nystagmus Strabismus Spasticity Abnormal lymphocyte morphology Irregular hyperpigmentation Neoplasm of the skin Low-set ears Hypocholesterolemia Abnormal electroretinogram Ectropion Abnormality of the pleura Steatorrhea Gangrene Microcephaly Cutaneous T-cell lymphoma Abnormal immunoglobulin level Lichenification T-cell lymphoma Lymphoma Skin rash Palmoplantar keratoderma Increased urinary O-linked sialopeptides Axonal degeneration Telangiectasia of the skin Abnormality of the periventricular white matter Motor polyneuropathy Esodeviation Progressive distal muscle weakness Angiokeratoma Angiokeratoma corporis diffusum Lip telangiectasia Distal sensory impairment of all modalities Hypotrichosis White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Skeletal muscle atrophy Tremor Splenomegaly Alopecia Weight loss Hepatosplenomegaly Pruritus Nail dystrophy Cardiomyopathy Hypertelorism Midface retrusion Gowers sign Rod-cone dystrophy Areflexia Malar flattening Wide nasal bridge Ectodermal dysplasia Chronic diarrhea Hypocalcemia Respiratory insufficiency due to muscle weakness Encephalitis Anhidrosis Sepsis Episodic fever Amelogenesis imperfecta Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Pyelonephritis Protracted diarrhea Osteoporosis Flat face Decreased liver function Retinal dystrophy Depressed nasal ridge Visual impairment Choanal atresia Gingival overgrowth Rhizomelia Leukopenia Abnormal bleeding Recurrent upper respiratory tract infections Single transverse palmar crease Neurodevelopmental delay Difficulty walking Upper limb undergrowth Agammaglobulinemia Noncompaction cardiomyopathy Seizures Opacification of the corneal stroma Talipes equinovarus Myopathy Pectus excavatum Encephalopathy Pneumonia Tinnitus Advanced eruption of teeth Aminoaciduria Umbilical hernia Urticaria Dysdiadochokinesis Macule Orthostatic hypotension Abnormality of the musculature Impaired smooth pursuit Supranuclear gaze palsy Supranuclear ophthalmoplegia Fatigue Jaundice Fasciculations Lethargy Abdominal distention Macroglossia Large fontanelles Oligodontia Goiter Congenital hypothyroidism Hypersomnia Ectopic thyroid Macular degeneration Limb ataxia Blindness Babinski sign Flexion contracture Arthritis Mitral regurgitation Aortic valve stenosis Pulmonary edema Calcification of the aorta Hyperreflexia Gait disturbance Cerebellar atrophy Gait ataxia Hypohidrosis Erythema Abnormal pyramidal sign Neurological speech impairment Ophthalmoplegia Facial asymmetry Abnormality of movement Progressive cerebellar ataxia Abnormality of the skin Hypotension Intention tremor Thyroid agenesis Respiratory failure Lymphedema Abnormality of the eye Thick nail Long penis Abnormality of the upper urinary tract Abnormality of the abdominal wall Female pseudohermaphroditism Cognitive impairment Depressed nasal bridge Intellectual disability, mild Cerebral atrophy Distal muscle weakness Prematurely aged appearance Abnormality of the cerebral white matter Vertigo Distal sensory impairment Thick vermilion border Bilateral sensorineural hearing impairment Cardiomegaly Thick lower lip vermilion Subcutaneous nodule Telangiectasia Growth hormone excess Abnormality of the thyroid gland Postnatal growth retardation Osteosarcoma Ichthyosis Hemolytic anemia Abnormal lung morphology Bronchiectasis Abnormal intestine morphology Recurrent skin infections Myelodysplasia Autoimmune hemolytic anemia Severe intrauterine growth retardation Protein-losing enteropathy Precocious puberty Folliculitis Erythroid dysplasia Brachydactyly Diabetes mellitus Mandibular prognathia Proteinuria Generalized hirsutism Acanthosis nigricans Coarse hair Polycystic ovaries Very long chain fatty acid accumulation



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